ClinVar Miner

List of variants reported as likely pathogenic for Tyrosinase-negative oculocutaneous albinism by Center of Medical Genetics, Central South University

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1198T>A (p.Trp400Arg)	rs1590902150
NM_000372.5(TYR):c.157G>T (p.Gly53Cys)	rs1591133731
NM_000372.5(TYR):c.529G>C (p.Val177Leu)	rs138487695

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