ClinVar Miner

List of variants reported as likely pathogenic for congenital factor VII deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_019616.4(F7):c.-30A>C rs539578931 0.00048
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_019616.4(F7):c.854G>A (p.Arg285His) rs121964929 0.00009
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NM_019616.4(F7):c.403G>A (p.Gly135Ser) rs763458490 0.00004
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 0.00002
NM_019616.4(F7):c.400G>A (p.Gly134Ser) rs563972504 0.00002
NM_000131.4(F7):c.-61T>G rs1367115848 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.1105G>A (p.Gly369Ser) rs190485816 0.00001
NM_019616.4(F7):c.1219G>A (p.Ala407Thr) rs755377592 0.00001
NM_019616.4(F7):c.152T>A (p.Leu51Gln) rs45572939 0.00001
NM_019616.4(F7):c.443G>A (p.Arg148His) rs375134790 0.00001
NM_019616.4(F7):c.505+78G>A rs764741909 0.00001
NM_019616.4(F7):c.517T>C (p.Cys173Arg) rs372577568 0.00001
NM_019616.4(F7):c.615+1G>T rs769452933 0.00001
NM_019616.4(F7):c.656C>A (p.Thr219Asn) rs1160146175 0.00001
NM_019616.4(F7):c.739+5G>A rs746625213 0.00001
NM_019616.4(F7):c.961G>A (p.Gly321Ser) rs1250853566 0.00001
NM_000131.4(F7):c.-55C>T rs1418012389
NM_019616.4(F7):c.1043G>A (p.Cys348Tyr)
NM_019616.4(F7):c.1048C>T (p.Gln350Ter) rs1595080617
NM_019616.4(F7):c.1051C>T (p.Gln351Ter)
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.1206G>A (p.Trp402Ter)
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.145G>C (p.Gly49Arg) rs376384665
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.154dup (p.Glu52fs)
NM_019616.4(F7):c.175C>T (p.Gln59Ter)
NM_019616.4(F7):c.196C>T (p.Arg66Trp)
NM_019616.4(F7):c.220A>G (p.Arg74Gly) rs2142212748
NM_019616.4(F7):c.580G>C (p.Gly194Arg)
NM_019616.4(F7):c.581G>A (p.Gly194Asp)
NM_019616.4(F7):c.64+1005G>A
NM_019616.4(F7):c.649G>C (p.Gly217Arg) rs2142229154
NM_019616.4(F7):c.64G>A (p.Val22Ile)
NM_019616.4(F7):c.737T>C (p.Leu246Pro) rs2142229513
NM_019616.4(F7):c.739+1G>A
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del) rs757743255
NM_019616.4(F7):c.80del (p.Glu27fs)
NM_019616.4(F7):c.857T>C (p.Leu286Pro) rs2142232799
NM_019616.4(F7):c.86C>A (p.Ala29Asp) rs2036074360
NM_019616.4(F7):c.871del (p.Val291fs) rs2142232898
NM_019616.4(F7):c.895C>T (p.Leu299Phe)
NM_019616.4(F7):c.974del (p.Leu325fs)
NM_019616.4(F7):c.[179G>T;190_191delinsTT]
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.