ClinVar Miner

List of variants reported as pathogenic for Congenital factor VII deficiency by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 3

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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.1325del (p.Pro442fs)	rs750457207
NM_019616.4(F7):c.783_799del (p.Arg262fs)	rs786205091

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