ClinVar Miner

List of variants reported as uncertain significance for Peroxisome biogenesis disorder 1A (Zellweger); Deafness enamel hypoplasia nail defects; Peroxisome biogenesis disorder 1B by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

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Total variants: 1
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NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys) rs553001596

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