Total 240 pathogenic variants reported for Hereditary angioedema type 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) SNV
Germline		 Chr11:57614475 Conflicting classifications of pathogenicity Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Condition: not provided
Hereditary angioedema type 1
Inborn genetic diseases
C1 inhibitor deficiency
Hereditary angioedema type 1		 Criteria Provided
Conflicting Classifications
 CA116519 rs_121907948

8 SubmittersRCV000004152RCV000433404RCV000768682RCV002390090RCV002482825
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys) SNV
Germline		 Chr11:57614474 Pathogenic Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116521 rs_28940870

8 SubmittersRCV000004153RCV000059084RCV000768683
NM_000062.3(SERPING1):c.1249+1G>T SNV
Germline		 Chr11:57611937 Pathogenic Hereditary angioedema type 1 No Assertion Criteria Provided
 CA380703548 rs_112565881

1 SubmittersRCV000004157
NC_000011.10:g.57597582C>T SNV
Germline		 Chr11:57597582 Pathogenic Hereditary angioedema type 1 No Assertion Criteria Provided
 rs_2135304804

1 SubmittersRCV000004162
NM_000062.3(SERPING1):c.597C>G (p.Tyr199Ter) SNV
Germline		 Chr11:57602081 Pathogenic Hereditary angioedema type 1 No Assertion Criteria Provided
 CA116532 rs_121907951

1 SubmittersRCV000004163
NM_000062.3(SERPING1):c.1289T>A (p.Leu430Gln) SNV
Germline		 Chr11:57614367 Pathogenic Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Single Submitter
 CA219249 rs_281875174

2 SubmittersRCV000059080RCV004586533
NM_000062.3(SERPING1):c.1490A>G (p.Asp497Gly) SNV
Germline		 Chr11:57614568 Likely pathogenic Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Single Submitter
 CA219259 rs_281875178

2 SubmittersRCV000059087RCV004579536
NM_000062.3(SERPING1):c.461A>G (p.Tyr154Cys) SNV
Germline		 Chr11:57600288 Pathogenic Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Single Submitter
 CA219263 rs_281875168

2 SubmittersRCV000059089RCV004586534
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg) SNV
Germline		 Chr11:57600377 Pathogenic/Likely pathogenic Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA219267 rs_281875170

5 SubmittersRCV000059091RCV000768681
NM_000062.3(SERPING1):c.689T>C (p.Leu230Pro) SNV
Germline		 Chr11:57606013 Pathogenic Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Single Submitter
 CA219269 rs_281875171

2 SubmittersRCV000059092RCV004691742
NM_000062.3(SERPING1):c.587T>A (p.Ile196Asn) SNV
Germline		 Chr11:57602071 Likely pathogenic Hereditary angioedema type 1
Angioedema		 Criteria Provided
Single Submitter
 CA380696895 rs_1554995255

2 SubmittersRCV000508641RCV004579542
NM_000062.3(SERPING1):c.953C>G (p.Ser318Ter) SNV
Germline		 Chr11:57606471 Pathogenic Hereditary angioedema type 1 No Assertion Criteria Provided
 CA380700485 rs_1554995860

1 SubmittersRCV000508612
NM_000062.3(SERPING1):c.52-1G>A SNV
Germline		 Chr11:57599878 Pathogenic Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603251 rs_886041353

2 SubmittersRCV000329390RCV004595502
NM_000062.3(SERPING1):c.5C>T (p.Ala2Val) SNV
Germline		 Chr11:57598275 Conflicting classifications of pathogenicity Hereditary angioedema type 1
Condition: not provided
Hereditary angioedema type 1
C1 inhibitor deficiency		 Criteria Provided
Conflicting Classifications
 CA6007946 rs_185342631

4 SubmittersRCV000404962RCV000861019RCV000768088
NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu) SNV
Germline		 Chr11:57599944 Conflicting classifications of pathogenicity Hereditary angioedema type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10635075 rs_11229062

3 SubmittersRCV000364086RCV001859812
NM_000062.3(SERPING1):c.285C>A (p.Thr95=) SNV
Germline		 Chr11:57600112 Conflicting classifications of pathogenicity Hereditary angioedema type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10638779 rs_886048400

2 SubmittersRCV000266502RCV002520729
NM_000062.3(SERPING1):c.227C>T (p.Thr76Ile) SNV
Germline		 Chr11:57600054 Conflicting classifications of pathogenicity Hereditary angioedema type 1
Condition: not provided
SERPING1-related disorder		 Criteria Provided
Conflicting Classifications
 CA10639419 rs_182779591

3 SubmittersRCV000361136RCV001850619RCV004755861
NM_000062.3(SERPING1):c.871A>C (p.Asn291His) SNV
Germline		 Chr11:57606195 Conflicting classifications of pathogenicity Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Conflicting Classifications
 CA16606256 rs_1057520366

3 SubmittersRCV000423987RCV000768684
NM_000062.3(SERPING1):c.752T>C (p.Leu251Pro) SNV
Germline		 Chr11:57606076 Likely pathogenic Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA380698935 rs_1554995774

2 SubmittersRCV000497385RCV004691788
NM_000062.3(SERPING1):c.1385T>G (p.Ile462Ser) SNV
Germline		 Chr11:57614463 Pathogenic Hereditary angioedema type 1 No Assertion Criteria Provided
 CA380690721 rs_763451792

1 SubmittersRCV000576893
NM_000062.3(SERPING1):c.55A>T (p.Arg19Ter) SNV
Germline		 Chr11:57599882 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1565169419

1 SubmittersRCV000758137
NM_000062.3(SERPING1):c.1247T>A (p.Leu416Ter) SNV
Germline		 Chr11:57611934 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1565173405

1 SubmittersRCV000758138
NM_000062.3(SERPING1):c.1A>C (p.Met1Leu) SNV
Germline		 Chr11:57598271 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1565168898

1 SubmittersRCV000768692
NM_000062.3(SERPING1):c.1A>G (p.Met1Val) SNV
Germline		 Chr11:57598271 Pathogenic Hereditary angioedema type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1565168898

2 SubmittersRCV000768691RCV003558567
NM_000062.3(SERPING1):c.1012C>T (p.Gln338Ter) SNV
Germline		 Chr11:57606530 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1565171906

1 SubmittersRCV000768687
NM_000062.3(SERPING1):c.1420C>T (p.Gln474Ter) SNV
Germline		 Chr11:57614498 Pathogenic Hereditary angioedema type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1565174105

2 SubmittersRCV000768693RCV001855976
NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter) SNV
Germline		 Chr11:57614558 Pathogenic Hereditary angioedema type 1
Condition: not provided
SERPING1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_922149386

6 SubmittersRCV000768686RCV001008644RCV003392582
NM_000062.3(SERPING1):c.878T>C (p.Ile293Thr) SNV
Germline		 Chr11:57606202 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1590826571

1 SubmittersRCV000851273
NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser) SNV
Germline		 Chr11:57606426 Conflicting classifications of pathogenicity Hereditary angioedema type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1590826703

3 SubmittersRCV000851274RCV001759640
NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter) SNV
Germline		 Chr11:57611723 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1590829609

1 SubmittersRCV000851275
NM_000062.3(SERPING1):c.1373C>T (p.Ala458Val) SNV
Germline		 Chr11:57614451 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1590831432

1 SubmittersRCV000851284
NM_000062.3(SERPING1):c.1417G>A (p.Val473Met) SNV
Germline		 Chr11:57614495 Pathogenic Hereditary angioedema type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_956390201

2 SubmittersRCV000851282RCV003558613
NM_000062.3(SERPING1):c.1446G>A (p.Trp482Ter) SNV
Germline		 Chr11:57614524 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1590831545

1 SubmittersRCV000851278
NM_000062.3(SERPING1):c.124G>T (p.Glu42Ter) SNV
Germline		 Chr11:57599951 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_778625408

1 SubmittersRCV000856823
NM_000062.3(SERPING1):c.-22-155G>T SNV
Germline		 Chr11:57598094 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1945307391

1 SubmittersRCV001090004
NM_000062.3(SERPING1):c.1029+384A>G SNV
Germline		 Chr11:57606931 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1945416520

1 SubmittersRCV001090005
NM_000062.3(SERPING1):c.244A>T (p.Thr82Ser) SNV
Germline		 Chr11:57600071 Conflicting classifications of pathogenicity Hereditary angioedema type 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_147409450

4 SubmittersRCV001107208RCV001436658RCV002451322
NM_000062.3(SERPING1):c.330A>G (p.Pro110=) SNV
Germline		 Chr11:57600157 Conflicting classifications of pathogenicity Hereditary angioedema type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1371887844

2 SubmittersRCV001107210RCV003769102
NM_000062.3(SERPING1):c.981C>T (p.Ser327=) SNV
Germline		 Chr11:57606499 Conflicting classifications of pathogenicity Hereditary angioedema type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1433680488

2 SubmittersRCV001102616RCV003669186
NM_000062.3(SERPING1):c.1164G>A (p.Met388Ile) SNV
Germline		 Chr11:57611851 Conflicting classifications of pathogenicity Hereditary angioedema type 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_141529833

3 SubmittersRCV001102618RCV001491789RCV002320364
NM_000062.3(SERPING1):c.1193T>C (p.Leu398Pro) SNV
Germline		 Chr11:57611880 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1945480328

2 SubmittersRCV001253494
NM_000062.3(SERPING1):c.686-1G>A SNV
Somatic		 Chr11:57606009 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1945404833

1 SubmittersRCV001258391
NM_000062.3(SERPING1):c.985A>T (p.Lys329Ter) SNV
Somatic		 Chr11:57606503 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1945411910

1 SubmittersRCV001258393
NM_000062.3(SERPING1):c.890-14C>G SNV
Germline		 Chr11:57606394 Likely pathogenic Hereditary angioedema type 1
Inborn genetic diseases
SERPING1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2135318127

3 SubmittersRCV001374628RCV002377560RCV003394016
NM_000062.3(SERPING1):c.1193T>G (p.Leu398Arg) SNV
Germline		 Chr11:57611880 Pathogenic Hereditary angioedema with C1Inh deficiency
Hereditary angioedema type 1		 Criteria Provided
Single Submitter
 rs_1945480328

2 SubmittersRCV002221659RCV004671425
NM_000062.3(SERPING1):c.1289T>G (p.Leu430Arg) SNV
Germline		 Chr11:57614367 Pathogenic Hereditary angioedema with C1Inh deficiency
Hereditary angioedema type 1		 Criteria Provided
Single Submitter
 rs_281875174

2 SubmittersRCV002221661RCV004587197
NM_000062.3(SERPING1):c.538C>T (p.Gln180Ter) SNV
Germline		 Chr11:57600365 Pathogenic Hereditary angioedema with C1Inh deficiency
Hereditary angioedema type 1		 Criteria Provided
Single Submitter
 rs_2135308831

2 SubmittersRCV002221670RCV004587198
NM_000062.3(SERPING1):c.551-1G>C SNV
Germline		 Chr11:57602034 Pathogenic/Likely pathogenic Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2135311222

2 SubmittersRCV001890309RCV004691455
NM_000062.3(SERPING1):c.1429T>C (p.Phe477Leu) SNV
Germline		 Chr11:57614507 Pathogenic Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2135328208

2 SubmittersRCV001949095RCV004596499
NM_000062.3(SERPING1):c.1450C>T (p.Gln484Ter) SNV
Germline		 Chr11:57614528 Pathogenic C1 inhibitor deficiency
Hereditary angioedema type 1
Hereditary angioedema type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2135328243

2 SubmittersRCV002208779RCV004595650
NM_000062.3(SERPING1):c.346C>T (p.Gln116Ter) SNV
Germline		 Chr11:57600173 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_2135308550

1 SubmittersRCV002244080
NM_000062.3(SERPING1):c.1309C>T (p.Gln437Ter) SNV
Germline		 Chr11:57614387 Pathogenic Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2135327898

2 SubmittersRCV002262358RCV004595656
NM_000062.3(SERPING1):c.1196C>G (p.Pro399Arg) SNV
Unknown		 Chr11:57611883 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003320016
NM_000062.3(SERPING1):c.1503A>C (p.Ter501Cys) SNV
Germline		 Chr11:57614581 Conflicting classifications of pathogenicity Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003549979RCV004698587
NM_000062.3(SERPING1):c.553G>C (p.Ala185Pro) SNV
Germline		 Chr11:57602037 Conflicting classifications of pathogenicity Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003557599RCV004696551
NM_000062.3(SERPING1):c.743C>G (p.Pro248Arg) SNV
Germline		 Chr11:57606067 Conflicting classifications of pathogenicity Hereditary angioedema type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004577964RCV003557600
NM_000062.3(SERPING1):c.1070T>A (p.Ile357Asn) SNV
Germline		 Chr11:57611757 Conflicting classifications of pathogenicity Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003557603RCV004579618
NM_000062.3(SERPING1):c.51+3A>C SNV
Germline		 Chr11:57598324 Conflicting classifications of pathogenicity Condition: not provided
Hereditary angioedema type 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003727119RCV004584239
NM_000062.3(SERPING1):c.686-2A>G SNV
Germline		 Chr11:57606008 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004577694
NM_000062.3(SERPING1):c.599C>T (p.Pro200Leu) SNV
Germline		 Chr11:57602083 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004577706
NM_000062.3(SERPING1):c.1249+2T>G SNV
Germline		 Chr11:57611938 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004577708
NM_000062.3(SERPING1):c.-161A>G SNV
Germline		 Chr11:57597584 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1291031675

1 SubmittersRCV004577934
NM_000062.3(SERPING1):c.732C>A (p.Tyr244Ter) SNV
Germline		 Chr11:57606056 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004577970
NM_000062.3(SERPING1):c.686-12A>G SNV
Germline		 Chr11:57605998 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004577971
NM_000062.3(SERPING1):c.1040T>C (p.Leu347Pro) SNV
Germline		 Chr11:57611727 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004577972
NM_000062.3(SERPING1):c.1030-1G>T SNV
Germline		 Chr11:57611716 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004577974
NM_000062.3(SERPING1):c.1001A>C (p.His334Pro) SNV
Germline		 Chr11:57606519 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004577975
NM_000062.3(SERPING1):c.1030-1G>C SNV
Germline		 Chr11:57611716 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004578023
NM_000062.3(SERPING1):c.1109T>A (p.Met370Lys) SNV
Germline		 Chr11:57611796 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004579637
NM_000062.3(SERPING1):c.1423C>T (p.Gln475Ter) SNV
Germline		 Chr11:57614501 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004579642
NM_000062.3(SERPING1):c.550+1G>C SNV
Germline		 Chr11:57600378 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004584247
NM_000062.3(SERPING1):c.550+2T>A SNV
Germline		 Chr11:57600379 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004584268
NM_000062.3(SERPING1):c.550+5G>A SNV
Germline		 Chr11:57600382 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004584269
NM_000062.3(SERPING1):c.51+1G>T SNV
Germline		 Chr11:57598322 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004584277
NM_000062.3(SERPING1):c.1492C>T (p.Pro498Ser) SNV
Germline		 Chr11:57614570 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004586444
NM_000062.3(SERPING1):c.1289T>C (p.Leu430Pro) SNV
Germline		 Chr11:57614367 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004586446
NM_000062.3(SERPING1):c.809C>A (p.Thr270Asn) SNV
Germline		 Chr11:57606133 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004586448
NM_000062.3(SERPING1):c.718T>C (p.Ser240Pro) SNV
Germline		 Chr11:57606042 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004586449
NM_000062.3(SERPING1):c.458T>G (p.Leu153Arg) SNV
Germline		 Chr11:57600285 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004586450
NM_000062.3(SERPING1):c.1493C>G (p.Pro498Arg) SNV
Germline		 Chr11:57614571 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004586451
NM_000062.3(SERPING1):c.808A>C (p.Thr270Pro) SNV
Germline		 Chr11:57606132 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1590826505

1 SubmittersRCV004586452
NM_000062.3(SERPING1):c.622C>T (p.Gln208Ter) SNV
Germline		 Chr11:57602106 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004586454
NM_000062.3(SERPING1):c.-22-1G>A SNV
Germline		 Chr11:57598248 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004593549
NM_000062.3(SERPING1):c.-22-3C>G SNV
Germline		 Chr11:57598246 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004593551
NM_000062.3(SERPING1):c.728T>C (p.Leu243Pro) SNV
Germline		 Chr11:57606052 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004595810
NM_000062.3(SERPING1):c.706T>G (p.Phe236Val) SNV
Germline		 Chr11:57606030 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004595811
NM_000062.3(SERPING1):c.613T>C (p.Cys205Arg) SNV
Germline		 Chr11:57602097 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004595812
NM_000062.3(SERPING1):c.35T>G (p.Leu12Arg) SNV
Germline		 Chr11:57598305 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004595813
NM_000062.3(SERPING1):c.52-2A>G SNV
Germline		 Chr11:57599877 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004595824
NM_000062.3(SERPING1):c.506T>C (p.Phe169Ser) SNV
Germline		 Chr11:57600333 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004595827
NM_000062.3(SERPING1):c.578T>C (p.Leu193Pro) SNV
Germline		 Chr11:57602062 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004595828
NM_000062.3(SERPING1):c.674T>C (p.Phe225Ser) SNV
Germline		 Chr11:57602158 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004595829
NM_000062.3(SERPING1):c.1430T>C (p.Phe477Ser) SNV
Germline		 Chr11:57614508 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004595834
NM_000062.3(SERPING1):c.1153A>T (p.Lys385Ter) SNV
Germline		 Chr11:57611840 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004595836
NM_000062.3(SERPING1):c.971T>G (p.Met324Arg) SNV
Germline		 Chr11:57606489 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004698365
NM_000062.3(SERPING1):c.1229T>C (p.Leu410Pro) SNV
Germline		 Chr11:57611916 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004595840
NM_000062.3(SERPING1):c.1466C>G (p.Pro489Arg) SNV
Germline		 Chr11:57614544 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004595841
NM_000062.3(SERPING1):c.1226T>C (p.Met409Thr) SNV
Germline		 Chr11:57611913 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004596630
NM_000062.3(SERPING1):c.1048T>C (p.Ser350Pro) SNV
Germline		 Chr11:57611735 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004596655
NM_000062.3(SERPING1):c.1249+1G>A SNV
Germline		 Chr11:57611937 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_112565881

1 SubmittersRCV004597219
NM_000062.3(SERPING1):c.1250-1G>A SNV
Germline		 Chr11:57614327 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004597220
NM_000062.3(SERPING1):c.1280T>C (p.Leu427Pro) SNV
Germline		 Chr11:57614358 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004597222
NM_000062.3(SERPING1):c.130A>T (p.Lys44Ter) SNV
Germline		 Chr11:57599957 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004597228
NM_000062.3(SERPING1):c.1324C>T (p.Gln442Ter) SNV
Germline		 Chr11:57614402 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004597229
NM_000062.3(SERPING1):c.1328A>G (p.His443Arg) SNV
Germline		 Chr11:57614406 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004597231
NM_000062.3(SERPING1):c.1367C>A (p.Ala456Glu) SNV
Germline		 Chr11:57614445 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004597233
NM_000062.3(SERPING1):c.1375G>C (p.Ala459Pro) SNV
Germline		 Chr11:57614453 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004597234
NM_000062.3(SERPING1):c.1376C>A (p.Ala459Asp) SNV
Germline		 Chr11:57614454 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004597235
NM_000062.3(SERPING1):c.1379C>A (p.Ser460Tyr) SNV
Germline		 Chr11:57614457 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004597236
NM_000062.3(SERPING1):c.1442T>C (p.Leu481Pro) SNV
Germline		 Chr11:57614520 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004597237
NM_000062.3(SERPING1):c.1439T>A (p.Val480Glu) SNV
Germline		 Chr11:57614517 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004597238
NM_000062.3(SERPING1):c.1412T>C (p.Phe471Ser) SNV
Germline		 Chr11:57614490 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004597239
NM_000062.3(SERPING1):c.1396C>G (p.Arg466Gly) SNV
Germline		 Chr11:57614474 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004597240
NM_000062.3(SERPING1):c.1352A>G (p.Glu451Gly) SNV
Germline		 Chr11:57614430 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004596003
NM_000062.3(SERPING1):c.310C>T (p.Gln104Ter) SNV
Germline		 Chr11:57600137 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004674058
NM_000062.3(SERPING1):c.301C>T (p.Gln101Ter) SNV
Germline		 Chr11:57600128 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004674059
NM_000062.3(SERPING1):c.1478G>A (p.Gly493Glu) SNV
Germline		 Chr11:57614556 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004674065
NM_000062.3(SERPING1):c.415G>T (p.Glu139Ter) SNV
Germline		 Chr11:57600242 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004690531
NM_000062.3(SERPING1):c.449C>T (p.Ser150Phe) SNV
Germline		 Chr11:57600276 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004691678
NM_000062.3(SERPING1):c.452T>C (p.Leu151Pro) SNV
Germline		 Chr11:57600279 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004691680
NM_000062.3(SERPING1):c.473C>G (p.Ser158Ter) SNV
Germline		 Chr11:57600300 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004691681
NM_000062.3(SERPING1):c.519C>A (p.Ser173Arg) SNV
Germline		 Chr11:57600346 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004691683
NM_000062.3(SERPING1):c.794G>A (p.Trp265Ter) SNV
Germline		 Chr11:57606118 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004691690
NM_000062.3(SERPING1):c.793T>C (p.Trp265Arg) SNV
Germline		 Chr11:57606117 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004691707
NM_000062.3(SERPING1):c.667C>T (p.Gln223Ter) SNV
Germline		 Chr11:57602151 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004691712
NM_000062.3(SERPING1):c.707T>C (p.Phe236Ser) SNV
Germline		 Chr11:57606031 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004696585
NM_000062.3(SERPING1):c.722G>C (p.Arg241Pro) SNV
Germline		 Chr11:57606046 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004696607
NM_000062.3(SERPING1):c.554C>A (p.Ala185Asp) SNV
Germline		 Chr11:57602038 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004696608
NM_000062.3(SERPING1):c.820A>G (p.Ile274Val) SNV
Germline		 Chr11:57606144 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004696620
NM_000062.3(SERPING1):c.860T>C (p.Leu287Pro) SNV
Germline		 Chr11:57606184 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004698374
NM_000062.3(SERPING1):c.860T>G (p.Leu287Arg) SNV
Germline		 Chr11:57606184 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004698375
NM_000062.3(SERPING1):c.896G>A (p.Trp299Ter) SNV
Germline		 Chr11:57606414 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004698377
NM_000062.3(SERPING1):c.937T>C (p.Phe313Leu) SNV
Germline		 Chr11:57606455 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004698378
NM_000062.3(SERPING1):c.995T>G (p.Val332Gly) SNV
Germline		 Chr11:57606513 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004698381
NM_000062.3(SERPING1):c.971T>A (p.Met324Lys) SNV
Germline		 Chr11:57606489 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004698382
NM_000062.3(SERPING1):c.874G>C (p.Ala292Pro) SNV
Germline		 Chr11:57606198 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004698392
NM_000062.3(SERPING1):c.925A>T (p.Arg309Ter) SNV
Germline		 Chr11:57606443 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004698402
NM_000062.3(SERPING1):c.998C>A (p.Ala333Asp) SNV
Unknown		 Chr11:57606516 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004698404
NM_000062.3(SERPING1):c.620A>G (p.His207Arg) SNV
Germline		 Chr11:57602104 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004698771
NM_000062.3(SERPING1):c.1202T>C (p.Ile401Thr) SNV
Germline		 Chr11:57611889 Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter
 rs_1263371770

1 SubmittersRCV004732515
NM_000062.3(SERPING1):c.1477G>C (p.Gly493Arg) SNV
Germline		 Chr11:57614555 Pathogenic/Likely pathogenic Hereditary angioedema type 1 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004732516
NM_000062.3(SERPING1):c.373G>T (p.Gly125Ter) SNV
Germline		 Chr11:57600200 Pathogenic Hereditary angioedema type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004764729
NM_000062.3(SERPING1):c.890-1G>A SNV
Germline		 Chr11:57606407 Pathogenic Hereditary angioedema type 1 No Assertion Criteria Provided

1 SubmittersRCV004814784