ClinVar Miner

List of variants reported as pathogenic for Oculocutaneous albinism type 3 by OMIM

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Total variants: 6
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HGVS dbSNP
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424
NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer) rs387906561
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter) rs121912778
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) rs104894130

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