ClinVar Miner

List of variants reported as likely pathogenic for Factor VII deficiency

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Total variants: 22
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HGVS dbSNP gnomAD frequency
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.1085C>T (p.Thr362Met) rs531225271 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.656C>A (p.Thr219Asn) rs1160146175 0.00003
NM_019616.4(F7):c.961G>A (p.Gly321Ser) rs1250853566 0.00003
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 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.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.615+1G>T rs769452933 0.00001
NM_019616.4(F7):c.739+5G>A rs746625213 0.00001
NM_000131.4(F7):c.-55C>T rs1418012389
NM_019616.4(F7):c.1048C>T (p.Gln350Ter) rs1595080617
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.220A>G (p.Arg74Gly) rs2142212748
NM_019616.4(F7):c.737T>C (p.Leu246Pro) rs2142229513
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del) rs757743255

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