ClinVar Miner

List of variants studied for Hereditary factor VIII deficiency disease by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000132.4(F8):c.2045T>C (p.Val682Ala)
NM_000132.4(F8):c.639_651dup (p.Phe218fs) rs2124134352
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser) rs1321311878
NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)
NM_000132.4(F8):c.6821T>C (p.Met2274Thr)

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