List of variants reported as likely pathogenic for Tyrosinase-positive oculocutaneous albinism by Genetic Services Laboratory, University of Chicago

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)	rs144812594	0.00023
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212	0.00021
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)	rs765779905	0.00009
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)	rs757286784	0.00004
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)	rs780296175	0.00003
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg)	rs797045839	0.00002
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val)	rs797045838

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