List of variants reported as pathogenic for Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.650G>A (p.Arg217Gln)	rs61754365	0.00143
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000372.5(TYR):c.613C>A (p.Pro205Thr)	rs61754362	0.00008
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)	rs61754368

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