Total 66 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
 rs_121964928

1 SubmittersRCV000012850
NM_019616.4(F7):c.1190C>T (p.Thr397Met) SNV
Germline		 Chr13:113118863 Pathogenic Factor VII deficiency No Assertion Criteria Provided

1 SubmittersRCV000012852
NM_019616.4(F7):c.283A>G (p.Asn95Asp) SNV
Germline		 Chr13:113113879 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 rs_121964932

1 SubmittersRCV000012854
NM_019616.4(F7):c.364+1G>C SNV
Germline		 Chr13:113113961 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 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 Conflicting classifications of pathogenicity Factor VII deficiency
Abnormal bleeding
Condition: not provided
Congenital factor VII deficiency
Congenital factor VII deficiency
Myocardial infarction, susceptibility to		 Criteria Provided
Conflicting Classifications
 CA121850 rs_36209567

13 SubmittersRCV000012857RCV000851974RCV001091742RCV002243638RCV002496330
NC_000013.11:g.113105748C>G SNV
Germline		 Chr13:113105748 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 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

1 SubmittersRCV000012865
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) SNV
Germline		 Chr13:113118772 Pathogenic Factor VII deficiency No Assertion Criteria Provided
 CA121860 rs_121964934

1 SubmittersRCV000012866
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

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

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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7060222 rs_121964927

9 SubmittersRCV000254994RCV000714620RCV002252070RCV002280876
NM_019616.4(F7):c.1219G>A (p.Ala407Thr) SNV
Germline		 Chr13:113118892 Likely pathogenic Factor VII deficiency
F7-related disorder		 Criteria Provided
Single Submitter
 CA7060252 rs_755377592

2 SubmittersRCV000415275RCV003950324
NM_019616.4(F7):c.739+7A>G SNV
Germline		 Chr13:113117603 Conflicting classifications of pathogenicity not specified
Condition: not provided
Factor VII deficiency		 Criteria Provided
Conflicting Classifications
 CA7060090 rs_519650

3 SubmittersRCV000455126RCV000995099RCV001110402
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
Congenital factor VII deficiency
Myocardial infarction, susceptibility to
F7-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7060219 rs_121964926

11 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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7060229 rs_531225271

6 SubmittersRCV000482463RCV001095705RCV003313784
NM_019616.4(F7):c.-30A>C SNV
Unknown		 Chr13:113105812 Likely pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 rs_539578931

1 SubmittersRCV000851580
NM_019616.4(F7):c.152T>A (p.Leu51Gln) SNV
Unknown		 Chr13:113110777 Likely pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 rs_45572939

1 SubmittersRCV000852075
NM_019616.4(F7):c.413A>G (p.Gln138Arg) SNV
Germline		 Chr13:113115708 Pathogenic/Likely pathogenic Factor VII deficiency
Congenital factor VII deficiency
Congenital factor VII deficiency
Myocardial infarction, susceptibility to
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_200016360

5 SubmittersRCV000779128RCV002222629RCV002487576RCV003480807
NM_019616.4(F7):c.443G>A (p.Arg148His) SNV
Germline		 Chr13:113115738 Conflicting classifications of pathogenicity Factor VII deficiency
Congenital factor VII deficiency		 Criteria Provided
Conflicting Classifications
 rs_375134790

2 SubmittersRCV000851809RCV003447562
NM_019616.4(F7):c.656C>A (p.Thr219Asn) SNV
Germline		 Chr13:113117513 Likely pathogenic Factor VII deficiency
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1160146175

2 SubmittersRCV000851614RCV003330942
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
 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
Congenital factor VII deficiency
Myocardial infarction, susceptibility to		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_121964931

7 SubmittersRCV000995102RCV000852243RCV002245661RCV002487578
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
 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
 rs_1595080617

1 SubmittersRCV000851661
NM_000131.4(F7):c.-61T>G SNV
Germline		 Chr13:113105781 Likely pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 rs_1367115848

2 SubmittersRCV000851625
NM_000131.4(F7):c.-55C>T SNV
Germline		 Chr13:113105787 Likely pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 rs_1418012389

2 SubmittersRCV000851624
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
Myocardial infarction, susceptibility to
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1056071555

6 SubmittersRCV000852127RCV001561212RCV002487577RCV002245657
NM_019616.4(F7):c.615+1G>T SNV
Unknown		 Chr13:113116876 Likely pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 rs_769452933

1 SubmittersRCV000851856
NM_019616.4(F7):c.739+5G>A SNV
Unknown		 Chr13:113117601 Likely pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 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
 rs_77121822

4 SubmittersRCV000910300RCV001110404RCV002466595RCV003923135
NM_019616.4(F7):c.822G>A (p.Pro274=) SNV
Germline		 Chr13:113118495 Conflicting classifications of pathogenicity Factor VII deficiency
F7-related disorder		 Criteria Provided
Conflicting Classifications
 rs_566083695

2 SubmittersRCV001111141RCV003936258
NM_019616.4(F7):c.220A>G (p.Arg74Gly) SNV
Germline		 Chr13:113110845 Likely pathogenic Factor VII deficiency Criteria Provided
Single Submitter
 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
 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
 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
 rs_2142234775

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

4 SubmittersRCV001508717RCV001843373RCV003479334
NM_019616.4(F7):c.400G>A (p.Gly134Ser) SNV
Germline		 Chr13:113115695 Conflicting classifications of pathogenicity Condition: not provided
Congenital factor VII deficiency		 Criteria Provided
Conflicting Classifications
 rs_563972504

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

1 SubmittersRCV003147659
NM_019616.4(F7):c.1263C>G (p.Tyr421Ter) SNV
Germline		 Chr13:113118936 Pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter
 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
 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
 rs_2142232799

1 SubmittersRCV002074464
NM_019616.4(F7):c.403G>A (p.Gly135Ser) SNV
Unknown		 Chr13:113115698 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter
 rs_763458490

1 SubmittersRCV002074465
NM_019616.4(F7):c.86C>A (p.Ala29Asp) SNV
Unknown		 Chr13:113110711 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter
 rs_2036074360

1 SubmittersRCV002074471
NM_019616.4(F7):c.649G>C (p.Gly217Arg) SNV
Unknown		 Chr13:113117506 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter
 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
 rs_376384665

1 SubmittersRCV002222143
NM_019616.4(F7):c.868G>A (p.Val290Met) SNV
Germline		 Chr13:113118541 Pathogenic/Likely pathogenic Congenital factor VII deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_201991361

2 SubmittersRCV002223106
NM_019616.4(F7):c.505+78G>A SNV
Germline		 Chr13:113115878 Pathogenic/Likely pathogenic Condition: not provided
Congenital factor VII deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_764741909

2 SubmittersRCV002226073RCV002243529
NM_019616.4(F7):c.517T>C (p.Cys173Arg) SNV
Germline		 Chr13:113116777 Likely pathogenic Congenital factor VII deficiency
See cases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_372577568

3 SubmittersRCV002245395RCV003128439RCV002284230
NM_019616.4(F7):c.225+1G>C SNV
Germline		 Chr13:113110851 Pathogenic Congenital factor VII deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566906827

2 SubmittersRCV002254393RCV003326619
NM_019616.4(F7):c.1206G>A (p.Trp402Ter) SNV
Germline		 Chr13:113118879 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter

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

1 SubmittersRCV002280998
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

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

1 SubmittersRCV003236368
NM_019616.4(F7):c.580G>C (p.Gly194Arg) SNV
Unknown		 Chr13:113116840 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003494562
NM_019616.4(F7):c.196C>T (p.Arg66Trp) SNV
Germline		 Chr13:113110821 Likely pathogenic Congenital factor VII deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003993610