ClinVar Miner

List of variants studied for Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.121G>A (p.Gly41Arg)	rs369291837	0.00003
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)	rs773970123

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