List of variants reported as pathogenic for Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Ocular albinism with congenital sensorineural hearing loss; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1A>G (p.Met1Val)	rs28940881	0.00006
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)	rs121908011	0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)	rs62645916	0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	rs62645904	0.00004
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)	rs61753256	0.00003
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)	rs28940879	0.00001

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