ClinVar Miner

List of variants studied for Congenital factor VII deficiency by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
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.781C>T (p.Arg261Trp) rs779589651 0.00008
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.196C>T (p.Arg66Trp)
NM_019616.4(F7):c.290G>A (p.Gly97Asp)

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