ClinVar Miner

List of variants studied for congenital factor VII deficiency by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.64+4C>T rs187128791 0.00178
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_019616.4(F7):c.142C>T (p.Pro48Ser) rs373376565 0.00050
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
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.845C>T (p.Ala282Val) rs121964931 0.00006
NM_019616.4(F7):c.911G>A (p.Arg304Gln) rs146698837 0.00006
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NM_019616.4(F7):c.-27C>T rs886049985 0.00003
NM_019616.4(F7):c.400G>A (p.Gly134Ser) rs563972504 0.00002
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.217G>A (p.Glu73Lys) rs550453328 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
NC_000013.11:g.109179481_114327244del
NM_019616.4(F7):c.1206G>A (p.Trp402Ter)
NM_019616.4(F7):c.1247C>T (p.Thr416Ile) rs2142234668
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.169G>C (p.Glu57Gln)
NM_019616.4(F7):c.175C>T (p.Gln59Ter)
NM_019616.4(F7):c.196C>G (p.Arg66Gly)
NM_019616.4(F7):c.213C>G (p.Asp71Glu) rs761662200
NM_019616.4(F7):c.483C>A (p.Asp161Glu) rs6040
NM_019616.4(F7):c.64+937C>T
NM_019616.4(F7):c.649G>C (p.Gly217Arg) rs2142229154
NM_019616.4(F7):c.675G>T (p.Trp225Cys)
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_019616.4(F7):c.739+7_739+43del rs1309684522
NM_019616.4(F7):c.740-329G>A
NM_019616.4(F7):c.783_799del (p.Arg262fs) rs786205091
NM_019616.4(F7):c.893C>T (p.Pro298Leu)
NM_019616.4(F7):c.907G>A (p.Glu303Lys)
Single allele

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