Total 83 pathogenic variants reported for Factor VII deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_019616.4(F7):c.647G>A (p.Cys216Tyr) SNV
Germline		 Chr13:113117504 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 CA256460429 rs_121964928

1 SubmittersRCV000012850
NM_019616.4(F7):c.1190C>T (p.Thr397Met) SNV
Germline		 Chr13:113118863 Pathogenic Factor VII deficiency
Condition: not provided		 Criteria Provided
Single Submitter
 CA7060246 rs_121964930

2 SubmittersRCV000012852RCV004791220
NM_019616.4(F7):c.283A>G (p.Asn95Asp) SNV
Germline		 Chr13:113113879 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 CA256458253 rs_121964932

1 SubmittersRCV000012854
NM_019616.4(F7):c.364+1G>C SNV
Germline		 Chr13:113113961 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 CA388782571 rs_1056071555

1 SubmittersRCV000012855
NM_019616.4(F7):c.38T>C (p.Leu13Pro) SNV
Germline		 Chr13:113105879 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 CA121846 rs_387906507

1 SubmittersRCV000012856
NM_019616.4(F7):c.995C>T (p.Ala332Val) SNV
Germline		 Chr13:113118668 Pathogenic/Likely pathogenic Factor VII deficiency
Condition: not provided
Abnormal bleeding
Congenital factor VII deficiency
Myocardial infarction, susceptibility to
Congenital factor VII deficiency
F7-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121850 rs_36209567

17 SubmittersRCV000012857RCV001091742RCV000851974RCV002496330RCV002243638RCV004752703
NC_000013.11:g.113105748C>G SNV
Germline		 Chr13:113105748 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 CA612688696 rs_1263426144

1 SubmittersRCV000012863
NM_019616.4(F7):c.297C>A (p.Cys99Ter) SNV
Germline		 Chr13:113113893 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 CA256458256 rs_121964933

1 SubmittersRCV000012865
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) SNV
Germline		 Chr13:113118772 Pathogenic/Likely pathogenic Factor VII deficiency
Congenital factor VII deficiency
Myocardial infarction, susceptibility to
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121860 rs_121964934

4 SubmittersRCV000012866RCV005007839RCV004700223
NM_019616.4(F7):c.562C>T (p.Gln188Ter) SNV
Germline		 Chr13:113116822 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 CA121864 rs_267606790

1 SubmittersRCV000012867
NM_019616.4(F7):c.187G>A (p.Glu63Lys) SNV
Germline		 Chr13:113110812 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 CA256454598 rs_121964935

1 SubmittersRCV000012868
NM_019616.4(F7):c.1158T>G (p.His386Gln) SNV
Germline		 Chr13:113118831 Likely pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 CA121870 rs_121964936

2 SubmittersRCV000012869
NM_019616.4(F7):c.1174G>T (p.Gly392Cys) SNV
Germline		 Chr13:113118847 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 CA256461887 rs_121964937

1 SubmittersRCV000012870
NM_019616.4(F7):c.917T>C (p.Phe306Ser) SNV
Germline		 Chr13:113118590 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 CA121874 rs_387906508

1 SubmittersRCV000012871
NM_019616.4(F7):c.740-10T>C SNV
Germline		 Chr13:113118403 Conflicting classifications of pathogenicity not specified
Condition: not provided
Factor VII deficiency		 Criteria Provided
Conflicting Classifications
 CA7060121 rs_3093266

5 SubmittersRCV000250246RCV000957295RCV001110403
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) SNV
Germline		 Chr13:113118716 Pathogenic/Likely pathogenic Condition: not provided
Factor VII deficiency
See cases
Congenital factor VII deficiency
Myocardial infarction, susceptibility to
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7060222 rs_121964927

10 SubmittersRCV000254994RCV000714620RCV002252070RCV002280876RCV005008224
NM_019616.4(F7):c.1219G>A (p.Ala407Thr) SNV
Germline		 Chr13:113118892 Likely pathogenic Factor VII deficiency
F7-related disorder
Myocardial infarction, susceptibility to
Congenital factor VII deficiency		 Criteria Provided
Single Submitter
 CA7060252 rs_755377592

3 SubmittersRCV000415275RCV003950324RCV005004148
NM_019616.4(F7):c.739+7A>G SNV
Germline		 Chr13:113117603 Conflicting classifications of pathogenicity not specified
Factor VII deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7060090 rs_519650

3 SubmittersRCV000455126RCV001110402RCV000995099
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) SNV
Germline		 Chr13:113118698 Pathogenic/Likely pathogenic; other Condition: not provided
Factor VII deficiency
Factor VII Padua
Congenital factor VII deficiency
Myocardial infarction, susceptibility to
Congenital factor VII deficiency
F7-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7060219 rs_121964926

12 SubmittersRCV000479479RCV000779130RCV001843424RCV003147479RCV002496859RCV003419797
NM_019616.4(F7):c.1085C>T (p.Thr362Met) SNV
Germline		 Chr13:113118758 Pathogenic/Likely pathogenic Condition: not provided
Factor VII deficiency
Congenital factor VII deficiency
F7-related disorder
Myocardial infarction, susceptibility to
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7060229 rs_531225271

8 SubmittersRCV000482463RCV001095705RCV003313784RCV004752909RCV005010392
NM_019616.4(F7):c.-30A>C SNV
Unknown		 Chr13:113105812 Likely pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 CA7059796 rs_539578931

1 SubmittersRCV000851580
NM_019616.4(F7):c.149C>G (p.Ser50Cys) SNV
Germline		 Chr13:113110774 Conflicting classifications of pathogenicity Factor VII deficiency
Congenital factor VII deficiency
Myocardial infarction, susceptibility to
Congenital factor VII deficiency
F7-related disorder		 Criteria Provided
Conflicting Classifications
 CA7059868 rs_546856641

4 SubmittersRCV000852071RCV002245655RCV005012293RCV004753035
NM_019616.4(F7):c.152T>A (p.Leu51Gln) SNV
Germline		 Chr13:113110777 Conflicting classifications of pathogenicity Factor VII deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA256454525 rs_45572939

3 SubmittersRCV000852075RCV004719981
NM_019616.4(F7):c.413A>G (p.Gln138Arg) SNV
Germline		 Chr13:113115708 Pathogenic/Likely pathogenic Factor VII deficiency
Congenital factor VII deficiency
Condition: not provided
Myocardial infarction, susceptibility to
Congenital factor VII deficiency
F7-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7059961 rs_200016360

8 SubmittersRCV000779128RCV002222629RCV003480807RCV002487576RCV004753034
NM_019616.4(F7):c.443G>A (p.Arg148His) SNV
Germline		 Chr13:113115738 Conflicting classifications of pathogenicity Factor VII deficiency
Congenital factor VII deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7059970 rs_375134790

3 SubmittersRCV000851809RCV003447562RCV005250108
NM_019616.4(F7):c.656C>A (p.Thr219Asn) SNV
Germline		 Chr13:113117513 Pathogenic/Likely pathogenic Factor VII deficiency
Condition: not provided
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388785274 rs_1160146175

4 SubmittersRCV000851614RCV004792437RCV003330942
NM_019616.4(F7):c.781C>T (p.Arg261Trp) SNV
Germline		 Chr13:113118454 Conflicting classifications of pathogenicity Condition: not provided
Abnormality of coagulation
F7-related disorder
Congenital factor VII deficiency		 Criteria Provided
Conflicting Classifications
 CA7060140 rs_779589651

4 SubmittersRCV001300132RCV000851899RCV003975315RCV003987699
NM_019616.4(F7):c.845C>T (p.Ala282Val) SNV
Germline		 Chr13:113118518 Pathogenic/Likely pathogenic Condition: not provided
Factor VII deficiency
Congenital factor VII deficiency
F7-related disorder
Myocardial infarction, susceptibility to
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7060164 rs_121964931

8 SubmittersRCV000995102RCV000852243RCV002245661RCV004753036RCV002487578
NM_019616.4(F7):c.961G>A (p.Gly321Ser) SNV
Germline		 Chr13:113118634 Likely pathogenic Factor VII deficiency
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388786198 rs_1250853566

2 SubmittersRCV000851965RCV003323715
NM_019616.4(F7):c.1048C>T (p.Gln350Ter) SNV
Unknown		 Chr13:113118721 Likely pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 CA388786368 rs_1595080617

1 SubmittersRCV000851661
NM_000131.4(F7):c.-61T>G SNV
Germline		 Chr13:113105781 Likely pathogenic Factor VII deficiency
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA612688703 rs_1367115848

3 SubmittersRCV000851625RCV004782540
NM_000131.4(F7):c.-55C>T SNV
Germline		 Chr13:113105787 Pathogenic/Likely pathogenic Factor VII deficiency
Congenital factor VII deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA695273252 rs_1418012389

4 SubmittersRCV000851624RCV004689879RCV005436053
NM_019616.4(F7):c.364+1G>A SNV
Germline		 Chr13:113113961 Pathogenic/Likely pathogenic Factor VII deficiency
Condition: not provided
Congenital factor VII deficiency
Congenital factor VII deficiency
Myocardial infarction, susceptibility to		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256458325 rs_1056071555

6 SubmittersRCV000852127RCV001561212RCV002245657RCV002487577
NM_019616.4(F7):c.615+1G>T SNV
Germline		 Chr13:113116876 Pathogenic/Likely pathogenic Factor VII deficiency
Condition: not provided
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7060022 rs_769452933

3 SubmittersRCV000851856RCV004817989RCV004796298
NM_019616.4(F7):c.739+5G>A SNV
Unknown		 Chr13:113117601 Likely pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 CA7060089 rs_746625213

1 SubmittersRCV000851894
NM_019616.4(F7):c.785G>A (p.Arg262Gln) SNV
Germline		 Chr13:113118458 Conflicting classifications of pathogenicity Condition: not provided
Factor VII deficiency
Congenital factor VII deficiency
F7-related disorder		 Criteria Provided
Conflicting Classifications
 CA7060145 rs_77121822

5 SubmittersRCV000910300RCV001110404RCV002466595RCV003923135
NM_019616.4(F7):c.225+1G>A SNV
Germline		 Chr13:113110851 Pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter
 rs_1566906827

1 SubmittersRCV005232591
NM_019616.4(F7):c.844G>A (p.Ala282Thr) SNV
Germline		 Chr13:113118517 Conflicting classifications of pathogenicity Factor VII deficiency
Congenital factor VII deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7060163 rs_773627551

3 SubmittersRCV001111142RCV003448370RCV005620405
NM_019616.4(F7):c.220A>G (p.Arg74Gly) SNV
Germline		 Chr13:113110845 Likely pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 CA388781315 rs_2142212748

1 SubmittersRCV001420375
NM_019616.4(F7):c.394G>T (p.Glu132Ter) SNV
Germline		 Chr13:113115689 Pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 CA388783025 rs_146795869

1 SubmittersRCV001420377
NM_019616.4(F7):c.737T>C (p.Leu246Pro) SNV
Germline		 Chr13:113117594 Likely pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 CA388785452 rs_2142229513

1 SubmittersRCV001420379
NM_019616.4(F7):c.1272G>A (p.Trp424Ter) SNV
Germline		 Chr13:113118945 Pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 CA388787124 rs_2142234775

1 SubmittersRCV001420380
NM_019616.4(F7):c.854G>A (p.Arg285His) SNV
Germline		 Chr13:113118527 Pathogenic/Likely pathogenic Condition: not provided
F7-related disorder
Factor VII deficiency
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7060168 rs_121964929

6 SubmittersRCV001508717RCV004753349RCV001843373RCV003479334
NM_019616.4(F7):c.400G>A (p.Gly134Ser) SNV
Germline		 Chr13:113115695 Likely pathogenic Condition: not provided
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7059957 rs_563972504

2 SubmittersRCV001757424RCV002222725
NM_019616.4(F7):c.568C>T (p.Arg190Ter) SNV
Germline		 Chr13:113116828 Pathogenic Congenital factor VII deficiency
F7-related disorder		 Criteria Provided
Single Submitter
 CA7060012 rs_756151764

2 SubmittersRCV003147659RCV004753389
NM_019616.4(F7):c.1263C>G (p.Tyr421Ter) SNV
Germline		 Chr13:113118936 Pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter
 CA388787105 rs_1293477494

1 SubmittersRCV003147660
NM_019616.4(F7):c.1105G>A (p.Gly369Ser) SNV
Unknown		 Chr13:113118778 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter
 CA7060236 rs_190485816

1 SubmittersRCV001801311
NM_019616.4(F7):c.857T>C (p.Leu286Pro) SNV
Unknown		 Chr13:113118530 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter
 CA388785994 rs_2142232799

1 SubmittersRCV002074464
NM_019616.4(F7):c.403G>A (p.Gly135Ser) SNV
Germline		 Chr13:113115698 Conflicting classifications of pathogenicity Congenital factor VII deficiency
not specified
Congenital factor VII deficiency
Myocardial infarction, susceptibility to		 Criteria Provided
Conflicting Classifications
 CA7059959 rs_763458490

3 SubmittersRCV002074465RCV004770388RCV005002792
NM_019616.4(F7):c.86C>A (p.Ala29Asp) SNV
Germline		 Chr13:113110711 Conflicting classifications of pathogenicity Congenital factor VII deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA388780719 rs_2036074360

2 SubmittersRCV002074471RCV005238186
NM_019616.4(F7):c.649G>C (p.Gly217Arg) SNV
Unknown		 Chr13:113117506 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter
 CA388785260 rs_2142229154

1 SubmittersRCV002222141
NM_019616.4(F7):c.145G>C (p.Gly49Arg) SNV
Unknown		 Chr13:113110770 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter
 CA388780958 rs_376384665

1 SubmittersRCV002222143
NM_019616.4(F7):c.868G>A (p.Val290Met) SNV
Germline		 Chr13:113118541 Pathogenic/Likely pathogenic Congenital factor VII deficiency
Condition: not provided
Myocardial infarction, susceptibility to
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7060172 rs_201991361

4 SubmittersRCV002223106RCV004793744RCV005002805
NM_019616.4(F7):c.505+78G>A SNV
Germline		 Chr13:113115878 Pathogenic/Likely pathogenic Condition: not provided
Congenital factor VII deficiency
Myocardial infarction, susceptibility to
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256459479 rs_764741909

4 SubmittersRCV002226073RCV002243529RCV005002807
NM_019616.4(F7):c.517T>C (p.Cys173Arg) SNV
Germline		 Chr13:113116777 Likely pathogenic Congenital factor VII deficiency
Condition: not provided
See cases
Myocardial infarction, susceptibility to
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7060003 rs_372577568

4 SubmittersRCV002245395RCV002284230RCV003128439RCV005002808
NM_019616.4(F7):c.225+1G>C SNV
Germline		 Chr13:113110851 Pathogenic Congenital factor VII deficiency
Myocardial infarction, susceptibility to
Congenital factor VII deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388781335 rs_1566906827

3 SubmittersRCV002254393RCV005008491RCV003326619
NM_019616.4(F7):c.1206G>A (p.Trp402Ter) SNV
Germline		 Chr13:113118879 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter
 CA388786983 rs_2503057230

1 SubmittersRCV002280993
NM_019616.4(F7):c.175C>T (p.Gln59Ter) SNV
Germline		 Chr13:113110800 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter
 CA388781110 rs_1414353514

1 SubmittersRCV002280998
NM_019616.4(F7):c.686C>T (p.Ala229Val) SNV
Germline		 Chr13:113117543 Conflicting classifications of pathogenicity Condition: not provided
Congenital factor VII deficiency		 Criteria Provided
Conflicting Classifications
 CA7060071 rs_747989049

3 SubmittersRCV002284892RCV004700714
NM_019616.4(F7):c.748G>A (p.Asp250Asn) SNV
Germline		 Chr13:113118421 Conflicting classifications of pathogenicity Congenital factor VII deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA7060128 rs_751028917

2 SubmittersRCV002466855RCV003331370
NM_019616.4(F7):c.64+1005G>A SNV
Germline		 Chr13:113106910 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter
 CA256452187 rs_368272420

1 SubmittersRCV003236368
NM_019616.4(F7):c.739+1G>A SNV
Germline		 Chr13:113117597 Likely pathogenic Condition: not provided
Myocardial infarction, susceptibility to
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7060088 rs_779658565

2 SubmittersRCV003480262RCV005003652
NM_019616.4(F7):c.580G>C (p.Gly194Arg) SNV
Germline		 Chr13:113116840 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA388784978 rs_1186901138

2 SubmittersRCV003494562
NM_019616.4(F7):c.178T>C (p.Cys60Arg) SNV
Germline		 Chr13:113110803 Pathogenic F7-related disorder
Congenital factor VII deficiency		 Criteria Provided
Single Submitter
 CA7059870 rs_745374448

2 SubmittersRCV003896514RCV004801425
NM_019616.4(F7):c.196C>T (p.Arg66Trp) SNV
Germline		 Chr13:113110821 Conflicting classifications of pathogenicity Congenital factor VII deficiency
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA388781220 rs_776354144

3 SubmittersRCV003993610RCV004790652RCV004690502
NM_019616.4(F7):c.581G>A (p.Gly194Asp) SNV
Germline		 Chr13:113116841 Conflicting classifications of pathogenicity not specified
Condition: not provided
Congenital factor VII deficiency
Myocardial infarction, susceptibility to		 Criteria Provided
Conflicting Classifications
 CA388784983 rs_1438503836

3 SubmittersRCV004527088RCV004791690RCV005003766
NM_019616.4(F7):c.1008G>A (p.Met336Ile) SNV
Germline		 Chr13:113118681 Pathogenic F7-related disorder
Myocardial infarction, susceptibility to
Congenital factor VII deficiency		 Criteria Provided
Single Submitter

2 SubmittersRCV004754006RCV005003798
NM_019616.4(F7):c.895C>T (p.Leu299Phe) SNV
Germline		 Chr13:113118568 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter

1 SubmittersRCV004785878
NM_019616.4(F7):c.64G>A (p.Val22Ile) SNV
Germline		 Chr13:113105905 Likely pathogenic Myocardial infarction, susceptibility to
Congenital factor VII deficiency
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004797561RCV005002042
NM_019616.4(F7):c.1043G>A (p.Cys348Tyr) SNV
Germline		 Chr13:113118716 Likely pathogenic Congenital factor VII deficiency
Myocardial infarction, susceptibility to		 Criteria Provided
Single Submitter

1 SubmittersRCV005013379
NM_019616.4(F7):c.1051C>T (p.Gln351Ter) SNV
Germline		 Chr13:113118724 Likely pathogenic Congenital factor VII deficiency
Myocardial infarction, susceptibility to		 Criteria Provided
Single Submitter

1 SubmittersRCV005005586
NM_019616.4(F7):c.1157A>G (p.His386Arg) SNV
Germline		 Chr13:113118830 Pathogenic Congenital factor VII deficiency
Myocardial infarction, susceptibility to		 Criteria Provided
Single Submitter

1 SubmittersRCV005013381
NM_019616.4(F7):c.1318C>T (p.Arg440Ter) SNV
Germline		 Chr13:113118991 Pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005088285
NM_019616.4(F7):c.1249A>G (p.Arg417Gly) SNV
Germline		 Chr13:113118922 Pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005237094
NM_019616.4(F7):c.959G>A (p.Ser320Asn) SNV
Germline		 Chr13:113118632 Likely pathogenic Factor VII deficiency No Assertion Criteria Provided

1 SubmittersRCV005412103