ClinVar Miner

List of variants reported as likely pathogenic for Tyrosinase-positive oculocutaneous albinism

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Total variants: 19
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HGVS dbSNP
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594
NM_000275.3(OCA2):c.1503+5G>A rs368124046
NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg) rs879253729
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) rs797045838
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) rs797045839
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.3(MC1R):c.512C>G (p.Ala171Gly) rs373224783
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.517_519GTC[1] (p.Val174del) rs747777879
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002386.3(MC1R):c.894C>G (p.Tyr298Ter) rs143395134

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