ClinVar Miner

List of variants studied for Hereditary factor VIII deficiency disease by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.1569G>T (p.Leu523=) rs782733685 0.00001
NM_000132.4(F8):c.6658G>C (p.Ala2220Pro) rs782548763 0.00001
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.3213G>A (p.Met1071Ile)

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