ClinVar Miner

List of variants studied for Oculocutaneous albinism type 1A by Molecular Genetics, University Hospital Bordeaux

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000011.9:g.89110945_89175769del
NM_000372.5(TYR):c.255del (p.Phe84_Tyr85insTer) rs2496528505
NM_000372.5(TYR):c.259A>G (p.Arg87Gly) rs1943250802

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