ClinVar Miner

List of variants studied for Oculocutaneous albinism type 1A by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00009
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374

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