List of variants reported as pathogenic for Oculocutaneous albinism type 1A by MGZ Medical Genetics Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	rs61754388	0.00050
NM_000372.5(TYR):c.229C>T (p.Arg77Trp)	rs61753184	0.00005
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)	rs28940877	0.00002
NM_000372.5(TYR):c.286dup (p.Met96fs)	rs61753190

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