ClinVar Miner

List of variants studied for Oculocutaneous albinism type 4 by Center of Medical Genetics, Central South University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016180.5(SLC45A2):c.149C>A (p.Ala50Glu) rs1579564717
NM_016180.5(SLC45A2):c.187G>T (p.Val63Leu) rs779099623
NM_016180.5(SLC45A2):c.191G>T (p.Gly64Val) rs757331566

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