Total 145 pathogenic variants reported for Hereditary antithrombin deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr) SNV
Germline		 Chr1:173903978 Likely pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel
 CA210746 rs_121909546

3 SubmittersRCV000019619
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) SNV
Germline		 Chr1:173914726 Pathogenic Hereditary antithrombin deficiency
Condition: not provided		 Reviewed By Expert Panel
 CA210748 rs_121909547

7 SubmittersRCV000019620RCV004791230
NM_000488.4(SERPINC1):c.1246G>C (p.Ala416Pro) SNV
Germline		 Chr1:173904038 Pathogenic Condition: not provided
Hereditary antithrombin deficiency		 Reviewed By Expert Panel
 CA210750 rs_121909548

4 SubmittersRCV003886364RCV000019623
NM_000488.4(SERPINC1):c.1274G>C (p.Arg425Pro) SNV
Germline		 Chr1:173904010 Likely pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel
 CA210752 rs_121909549

2 SubmittersRCV000019625
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu) SNV
Germline		 Chr1:173904007 Pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel
 CA210754 rs_121909550

3 SubmittersRCV000019626
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) SNV
Germline		 Chr1:173914743 Pathogenic Hereditary antithrombin deficiency
Condition: not provided		 Reviewed By Expert Panel
 CA210756 rs_121909551

17 SubmittersRCV000019627RCV001090508
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) SNV
Germline		 Chr1:173914872 Pathogenic Hereditary antithrombin deficiency
Condition: not provided
Thromboembolism
Deep venous thrombosis		 Reviewed By Expert Panel
 CA325653 rs_2227624

10 SubmittersRCV000019628RCV000857628RCV000852239RCV000852240
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) SNV
Germline		 Chr1:173914725 Pathogenic Hereditary antithrombin deficiency
SERPINC1-related disorder
Condition: not provided		 Reviewed By Expert Panel
 CA210758 rs_121909552

13 SubmittersRCV000019630RCV004754265RCV002054451
NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser) SNV
Germline		 Chr1:173914726 Likely pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel
 CA210760 rs_121909547

2 SubmittersRCV000019631
NM_000488.4(SERPINC1):c.1273C>T (p.Arg425Cys) SNV
Germline		 Chr1:173904011 Pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel
 CA210762 rs_121909554

3 SubmittersRCV000019632
NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu) SNV
Germline		 Chr1:173903968 Likely pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel
 CA210764 rs_121909555

2 SubmittersRCV000019633
NM_000488.4(SERPINC1):c.1274G>A (p.Arg425His) SNV
Germline		 Chr1:173904010 Pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel
 CA210766 rs_121909549

3 SubmittersRCV000019635
NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr) SNV
Germline		 Chr1:173904044 Likely pathogenic Condition: not provided
Hereditary antithrombin deficiency		 Reviewed By Expert Panel
 CA210768 rs_121909557

4 SubmittersRCV004791231RCV000019636
NM_000488.4(SERPINC1):c.116T>A (p.Ile39Asn) SNV
Germline		 Chr1:173914845 Pathogenic Hereditary antithrombin deficiency No Assertion Criteria Provided
 CA210770 rs_121909558

1 SubmittersRCV000019637
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys) SNV
Germline		 Chr1:173914795 Likely pathogenic Hereditary antithrombin deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA210772 rs_28929469

3 SubmittersRCV000019638RCV000420779
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) SNV
Germline		 Chr1:173904038 Conflicting classifications of pathogenicity Hereditary antithrombin deficiency
not specified
Condition: not provided
Thrombocytopenia
Abnormal bleeding		 Criteria Provided
Conflicting Classifications
 CA211880 rs_121909548

9 SubmittersRCV000019639RCV000249153RCV000857698RCV001270536
NM_000488.4(SERPINC1):c.481C>T (p.Arg161Ter) SNV
Germline		 Chr1:173911942 Pathogenic Hereditary antithrombin deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA210776 rs_121909562

4 SubmittersRCV000019645RCV001588819
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln) SNV
Germline		 Chr1:173911941 Pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel
 CA210779 rs_121909563

4 SubmittersRCV000019646
NM_000488.4(SERPINC1):c.1382C>T (p.Pro461Leu) SNV
Germline		 Chr1:173903902 Pathogenic Hereditary antithrombin deficiency No Assertion Criteria Provided
 CA210781 rs_121909564

1 SubmittersRCV000019647
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) SNV
Germline		 Chr1:173914570 Pathogenic Hereditary antithrombin deficiency
Deep venous thrombosis
Condition: not provided		 Reviewed By Expert Panel
 CA210787 rs_121909567

9 SubmittersRCV000019650RCV000851769RCV001543498
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) SNV
Germline		 Chr1:173911981 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA210791 rs_121909569

3 SubmittersRCV000019655
NM_000488.4(SERPINC1):c.68T>C (p.Leu23Pro) SNV
Germline		 Chr1:173914893 Pathogenic Hereditary antithrombin deficiency No Assertion Criteria Provided
 CA210793 rs_387906575

1 SubmittersRCV000019656
NM_000488.4(SERPINC1):c.500A>C (p.Asn167Thr) SNV
Germline		 Chr1:173911923 Pathogenic Hereditary antithrombin deficiency No Assertion Criteria Provided
 CA210795 rs_121909570

1 SubmittersRCV000019657
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp) SNV
Germline		 Chr1:173910861 Pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel
 CA210798 rs_121909571

4 SubmittersRCV000019658
NM_000488.4(SERPINC1):c.667T>C (p.Ser223Pro) SNV
Germline		 Chr1:173910849 Pathogenic Hereditary antithrombin deficiency No Assertion Criteria Provided
 CA210800 rs_121909572

1 SubmittersRCV000019659
NM_000488.4(SERPINC1):c.379T>C (p.Cys127Arg) SNV
Germline		 Chr1:173914582 Pathogenic Hereditary antithrombin deficiency No Assertion Criteria Provided
 CA210802 rs_121909573

1 SubmittersRCV000019660
NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter) SNV
Germline		 Chr1:173909689 Pathogenic Tuberous sclerosis 2
Hereditary antithrombin deficiency		 Criteria Provided
Single Submitter
 CA150667 rs_483352856

2 SubmittersRCV000087276RCV001857426
NM_000488.4(SERPINC1):c.641C>A (p.Ser214Tyr) SNV
Germline		 Chr1:173910875 Likely pathogenic Tuberous sclerosis 2
Hereditary antithrombin deficiency		 Criteria Provided
Single Submitter
 CA150697 rs_483352854

2 SubmittersRCV000087290RCV002514538
NM_000488.4(SERPINC1):c.1154-14G>A SNV
Germline		 Chr1:173907528 Pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel
 CA16609956 rs_542881762

3 SubmittersRCV000456535
NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys) SNV
Germline		 Chr1:173909900 Conflicting classifications of pathogenicity Hereditary antithrombin deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1251332 rs_758087836

2 SubmittersRCV000471250RCV003480641
NM_000488.4(SERPINC1):c.1393T>C (p.Ter465Gln) SNV
Unknown		 Chr1:173903891 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter
 rs_1572084425

1 SubmittersRCV000852020
NM_000488.4(SERPINC1):c.1315C>A (p.Pro439Thr) SNV
Germline		 Chr1:173903969 Pathogenic Abnormal thrombosis
Hereditary antithrombin deficiency		 Reviewed By Expert Panel
 rs_1487411568

3 SubmittersRCV000852017RCV003330321
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu) SNV
Germline		 Chr1:173909752 Pathogenic Condition: not provided
Hereditary antithrombin deficiency		 Reviewed By Expert Panel
 rs_1460568494

4 SubmittersRCV004792443RCV000851915
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro) SNV
Germline		 Chr1:173911974 Likely pathogenic Hereditary antithrombin deficiency
Condition: not provided
SERPINC1-related disorder		 Reviewed By Expert Panel
 rs_765445413

5 SubmittersRCV000810125RCV002284206RCV004754569
NM_000488.4(SERPINC1):c.1153+5G>T SNV
Germline		 Chr1:173909547 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter
 rs_1572088348

1 SubmittersRCV000799445
NM_000488.4(SERPINC1):c.624+1G>A SNV
Germline		 Chr1:173911798 Likely pathogenic Hereditary antithrombin deficiency
Condition: not provided		 Reviewed By Expert Panel
 rs_1572090079

3 SubmittersRCV000856668RCV004818065
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr) SNV
Germline		 Chr1:173907511 Pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel
 rs_1449772752

4 SubmittersRCV001070670
NM_000488.4(SERPINC1):c.341G>A (p.Ser114Asn) SNV
Germline		 Chr1:173914620 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter
 rs_1657909645

1 SubmittersRCV001045955
NM_000488.4(SERPINC1):c.1315C>G (p.Pro439Ala) SNV
Germline		 Chr1:173903969 Pathogenic/Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_1487411568

2 SubmittersRCV001231167
NM_000488.4(SERPINC1):c.1057C>T (p.Pro353Ser) SNV
Germline		 Chr1:173909648 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter
 rs_2102782517

1 SubmittersRCV001377779
NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter) SNV
Germline		 Chr1:173907478 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter
 rs_2102778910

1 SubmittersRCV001380042
NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala) SNV
Germline		 Chr1:173911984 Likely pathogenic Hereditary antithrombin deficiency
SERPINC1-related disorder		 Reviewed By Expert Panel
 rs_2227606

3 SubmittersRCV001523260RCV003956212
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp) SNV
Germline		 Chr1:173914828 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter
 rs_768704768

2 SubmittersRCV001801304
NM_000488.4(SERPINC1):c.819G>C (p.Lys273Asn) SNV
Unknown		 Chr1:173909886 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter
 rs_2102783199

1 SubmittersRCV001801312
NM_000488.4(SERPINC1):c.436A>G (p.Lys146Glu) SNV
Unknown		 Chr1:173911987 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter
 rs_1170430756

1 SubmittersRCV001801322
NM_000488.4(SERPINC1):c.607C>T (p.Gln203Ter) SNV
Germline		 Chr1:173911816 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter
 rs_2102785788

1 SubmittersRCV001951154
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter) SNV
Germline		 Chr1:173910831 Pathogenic/Likely pathogenic Hereditary antithrombin deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1657743081

4 SubmittersRCV001958585RCV004793654
NM_000488.4(SERPINC1):c.381T>A (p.Cys127Ter) SNV
Germline		 Chr1:173914580 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter
 rs_2102789590

1 SubmittersRCV001984533
NM_000488.4(SERPINC1):c.116T>C (p.Ile39Thr) SNV
Unknown		 Chr1:173914845 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter
 rs_121909558

1 SubmittersRCV002074468
NM_000488.4(SERPINC1):c.1219-2A>G SNV
Unknown		 Chr1:173904067 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter
 rs_2102773374

1 SubmittersRCV002074473
NM_000488.4(SERPINC1):c.951G>T (p.Leu317Phe) SNV
Unknown		 Chr1:173909754 Likely pathogenic Hereditary antithrombin deficiency No Assertion Criteria Provided
 rs_1468108124

1 SubmittersRCV002245317
NM_000488.4(SERPINC1):c.851T>G (p.Met284Arg) SNV
Unknown		 Chr1:173909854 Likely pathogenic Hereditary antithrombin deficiency No Assertion Criteria Provided
 rs_1572088737

1 SubmittersRCV002245318
NM_000488.4(SERPINC1):c.473T>C (p.Leu158Pro) SNV
Unknown		 Chr1:173911950 Likely pathogenic Hereditary antithrombin deficiency No Assertion Criteria Provided
 rs_2102786101

1 SubmittersRCV002245320
NM_000488.4(SERPINC1):c.382A>T (p.Asn128Tyr) SNV
Unknown		 Chr1:173914579 Likely pathogenic Hereditary antithrombin deficiency No Assertion Criteria Provided
 rs_1657908048

1 SubmittersRCV002245321
NM_000488.4(SERPINC1):c.679G>T (p.Glu227Ter) SNV
Germline		 Chr1:173910837 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV002285196
NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg) SNV
Germline		 Chr1:173903918 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002664191
NM_000488.4(SERPINC1):c.1302C>A (p.Phe434Leu) SNV
Germline		 Chr1:173903982 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV002648222
NM_000488.4(SERPINC1):c.243G>A (p.Trp81Ter) SNV
Germline		 Chr1:173914718 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV002572012
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter) SNV
Germline		 Chr1:173911933 Pathogenic/Likely pathogenic Hereditary antithrombin deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003126293RCV004790480
NM_000488.4(SERPINC1):c.778A>T (p.Lys260Ter) SNV
Germline		 Chr1:173909927 Pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel

1 SubmittersRCV003330340
NM_000488.4(SERPINC1):c.614T>C (p.Leu205Pro) SNV
Unknown		 Chr1:173911809 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003484563
NM_000488.4(SERPINC1):c.1219-1G>A SNV
Unknown		 Chr1:173904066 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003484574
NM_000488.4(SERPINC1):c.1358T>C (p.Ile453Thr) SNV
Unknown		 Chr1:173903926 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003484578
NM_000488.4(SERPINC1):c.272C>T (p.Ala91Val) SNV
Germline		 Chr1:173914689 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003526964
NM_000488.4(SERPINC1):c.1311C>G (p.Asn437Lys) SNV
Germline		 Chr1:173903973 Pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel

2 SubmittersRCV003527184
NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter) SNV
Germline		 Chr1:173907497 Pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel

2 SubmittersRCV003527185
NM_000488.4(SERPINC1):c.1058C>T (p.Pro353Leu) SNV
Germline		 Chr1:173909647 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003527186
NM_000488.4(SERPINC1):c.1009C>T (p.Gln337Ter) SNV
Germline		 Chr1:173909696 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003527187
NM_000488.4(SERPINC1):c.580A>C (p.Ser194Arg) SNV
Germline		 Chr1:173911843 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003527189
NM_000488.4(SERPINC1):c.452T>A (p.Ile151Asn) SNV
Germline		 Chr1:173911971 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003527190
NM_000488.4(SERPINC1):c.409-1G>T SNV
Germline		 Chr1:173912015 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003527191
NM_000488.4(SERPINC1):c.409-1G>C SNV
Germline		 Chr1:173912015 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003527192
NM_000488.4(SERPINC1):c.41+5G>A SNV
Germline		 Chr1:173917214 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003527193
NC_000001.11:g.173917430G>C SNV
Germline		 Chr1:173917430 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003527194
NM_000488.4(SERPINC1):c.205G>T (p.Glu69Ter) SNV
Germline		 Chr1:173914756 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003639540
NM_000488.4(SERPINC1):c.374G>A (p.Gly125Asp) SNV
Germline		 Chr1:173914587 Pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003639154
NM_000488.4(SERPINC1):c.679G>A (p.Glu227Lys) SNV
Germline		 Chr1:173910837 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003877717
NM_000488.4(SERPINC1):c.749C>T (p.Thr250Ile) SNV
Germline		 Chr1:173910767 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003876451
NM_000488.4(SERPINC1):c.851T>C (p.Met284Thr) SNV
Germline		 Chr1:173909854 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003872232
NM_000488.4(SERPINC1):c.857A>C (p.Gln286Pro) SNV
Germline		 Chr1:173909848 Pathogenic Hereditary antithrombin deficiency Reviewed By Expert Panel

1 SubmittersRCV004577660
NM_000488.4(SERPINC1):c.938T>C (p.Met313Thr) SNV
Germline		 Chr1:173909767 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV004797559
NM_000488.4(SERPINC1):c.569A>G (p.Tyr190Cys) SNV
Unknown		 Chr1:173911854 Likely pathogenic Hereditary antithrombin deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005002125