ClinVar Miner

List of variants in gene TYR reported as likely pathogenic for Nonsyndromic Oculocutaneous Albinism

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Total variants: 14
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HGVS dbSNP
NM_000372.5(TYR):c.1037-18T>G rs781052288
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1184+2T>C rs758119014
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.223G>T (p.Asp75Tyr) rs1565386425
NM_000372.5(TYR):c.585G>A (p.Trp195Ter) rs147574809
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000372.5(TYR):c.943_948del (p.Ser315_Ala316del) rs1565391977

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