ClinVar Miner

List of variants reported as uncertain significance for Tyrosinase-negative oculocutaneous albinism

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_000372.5(TYR):c.1446G>C (p.Ala482=) rs3913543 0.00022
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840 0.00011
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000372.5(TYR):c.1202T>C (p.Leu401Pro) rs2135324201
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.157G>C (p.Gly53Arg) rs1591133731
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879

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