ClinVar Miner

List of variants reported as uncertain significance for 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: 18
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.64+4C>T rs187128791 0.00178
NM_019616.4(F7):c.142C>T (p.Pro48Ser) rs373376565 0.00050
NM_019616.4(F7):c.911G>A (p.Arg304Gln) rs146698837 0.00006
NM_019616.4(F7):c.-27C>T rs886049985 0.00003
NM_019616.4(F7):c.217G>A (p.Glu73Lys) rs550453328 0.00001
NM_019616.4(F7):c.517T>C (p.Cys173Arg) rs372577568 0.00001
NM_019616.4(F7):c.1247C>T (p.Thr416Ile) rs2142234668
NM_019616.4(F7):c.169G>C (p.Glu57Gln)
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.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.893C>T (p.Pro298Leu)
NM_019616.4(F7):c.907G>A (p.Glu303Lys)

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