ClinVar Miner

List of variants reported as pathogenic for Hereditary factor VIII deficiency disease by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000132.4(F8):c.4379del (p.Asn1460fs)	rs387906455
NM_000132.4(F8):c.43C>T (p.Arg15Ter)	rs387906432
NM_000132.4(F8):c.4936del (p.Ala1646fs)	rs1603433729

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