ClinVar Miner

List of variants reported as pathogenic for Hereditary factor VIII deficiency disease by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.233del (p.Phe78fs) rs2124148911
NM_000132.4(F8):c.255dup (p.Pro86fs) rs2124148856
NM_000132.4(F8):c.3266C>A (p.Ser1089Ter) rs2073189135
NM_000132.4(F8):c.494del (p.Pro165fs) rs2124140985
NM_000132.4(F8):c.5218A>G (p.Arg1740Gly)

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