ClinVar Miner

List of variants in gene PEX12 reported as pathogenic for Infantile Refsum's disease; Peroxisome biogenesis disorder 3A

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter) rs61752105
NM_000286.3(PEX12):c.744dup (p.Thr249fs) rs61752108

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