ClinVar Miner

List of variants reported as pathogenic for Oculocutaneous albinism type 1

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)	rs28940876	0.00018
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)	rs1013801316	0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)	rs61754392	0.00001

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