ClinVar Miner

List of variants reported as pathogenic for congenital factor VII deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
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.1158T>G (p.His386Gln) rs121964936 0.00002
NM_019616.4(F7):c.568C>T (p.Arg190Ter) rs756151764 0.00002
NC_000013.11:g.113105748C>G rs1263426144 0.00001
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.615+1G>T rs769452933 0.00001
NC_000013.11:g.109179481_114327244del
NM_000131.4(F7):c.-55C>T rs1418012389
NM_019616.4(F7):c.1008G>A (p.Met336Ile)
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.1157A>G (p.His386Arg)
NM_019616.4(F7):c.1174G>T (p.Gly392Cys)
NM_019616.4(F7):c.1190C>T (p.Thr397Met)
NM_019616.4(F7):c.1263C>G (p.Tyr421Ter) rs1293477494
NM_019616.4(F7):c.1272G>A (p.Trp424Ter) rs2142234775
NM_019616.4(F7):c.1318C>T (p.Arg440Ter)
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.178T>C (p.Cys60Arg)
NM_019616.4(F7):c.187G>A (p.Glu63Lys)
NM_019616.4(F7):c.225+1G>C rs1566906827
NM_019616.4(F7):c.283A>G (p.Asn95Asp) rs121964932
NM_019616.4(F7):c.297C>A (p.Cys99Ter)
NM_019616.4(F7):c.364+1G>C rs1056071555
NM_019616.4(F7):c.38T>C (p.Leu13Pro) rs387906507
NM_019616.4(F7):c.394G>T (p.Glu132Ter) rs146795869
NM_019616.4(F7):c.562C>T (p.Gln188Ter) rs267606790
NM_019616.4(F7):c.647G>A (p.Cys216Tyr) rs121964928
NM_019616.4(F7):c.686C>T (p.Ala229Val)
NM_019616.4(F7):c.783_799del (p.Arg262fs) rs786205091
NM_019616.4(F7):c.917T>C (p.Phe306Ser) rs387906508

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