List of variants reported as pathogenic for Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	rs63159160	0.00029
NM_000372.5(TYR):c.896G>A (p.Arg299His)	rs61754375	0.00006
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)	rs62645916	0.00004
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)	rs61753256	0.00003
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln)	rs61754393	0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)	rs28940879	0.00001
NM_000372.5(TYR):c.1200G>A (p.Trp400Ter)
NM_000372.5(TYR):c.216del (p.Val74fs)	rs1565386406
NM_000372.5(TYR):c.229C>G (p.Arg77Gly)
NM_000372.5(TYR):c.425A>T (p.Lys142Met)
NM_000372.5(TYR):c.929dup (p.Arg311fs)	rs281865527

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