ClinVar Miner

List of variants reported as pathogenic for Oculocutaneous albinism type 1A by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)	rs61753185	0.00007
NM_000372.5(TYR):c.229C>T (p.Arg77Trp)	rs61753184	0.00005
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)	rs151206295	0.00003

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