ClinVar Miner

List of variants studied for Infantile Refsum's disease; Peroxisome biogenesis disorder 3A by Fulgent Genetics,Fulgent Genetics

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Total variants: 2
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HGVS dbSNP
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804

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