ClinVar Miner

List of variants studied for Congenital factor VII deficiency by Genetics and Molecular Pathology, SA Pathology

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.785G>A (p.Arg262Gln) rs77121822 0.00118
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.443G>A (p.Arg148His) rs375134790 0.00001
NM_019616.4(F7):c.748G>A (p.Asp250Asn)

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