ClinVar Miner

List of variants reported as likely pathogenic for Nonsyndromic Oculocutaneous Albinism

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Total variants: 32
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HGVS dbSNP
NM_000275.2(OCA2):c.1075G>C (p.Gly359Arg) rs1555368749
NM_000275.2(OCA2):c.1182+2dupT
NM_000275.2(OCA2):c.1211C>T (p.Thr404Met) rs144812594
NM_000275.2(OCA2):c.1322A>G (p.Asp441Gly) rs147816326
NM_000275.2(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.3(OCA2):c.1045-15T>G
NM_000275.3(OCA2):c.1056A>C (p.Arg352Ser)
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val)
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu)
NM_000275.3(OCA2):c.1951+4A>G
NM_000275.3(OCA2):c.2360C>A (p.Ala787Glu)
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227
NM_000275.3(OCA2):c.987delCinsAGA (p.Gln330Aspfs)
NM_000372.4(TYR):c.1037-7T>A rs61754381
NM_000372.4(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.4(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.4(TYR):c.1255G>A (p.Gly419Arg) rs61754392
NM_000372.4(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.4(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.4(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000372.4:c.943_948delTCAGCT
NM_000372.5(TYR):c.1037-18T>G
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)
NM_000372.5(TYR):c.1184+2T>C
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.223G>T (p.Asp75Tyr)
NM_000372.5(TYR):c.585G>A (p.Trp195Ter)
NM_000550.2(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424
NM_000550.2(TYRP1):c.1534C>T (p.Gln512Ter)
NM_000550.2(TYRP1):c.256G>T (p.Asp86Tyr)
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val)

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