ClinVar Miner

List of variants in gene OCA2 reported as likely pathogenic for Nonsyndromic Oculocutaneous Albinism

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Total variants: 14
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HGVS dbSNP
NM_000275.3(OCA2):c.1045-15T>G rs779461179
NM_000275.3(OCA2):c.1056A>C (p.Arg352Ser) rs1566767423
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val) rs570914443
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg) rs1555368749
NM_000275.3(OCA2):c.1182+2dup rs1567200202
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.1951+4A>G rs759740402
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.3(OCA2):c.2360C>A (p.Ala787Glu) rs200457227
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227
NM_000275.3(OCA2):c.987delinsAGA (p.Gln330fs) rs1566797858

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