ClinVar Miner

List of variants in gene PEX13, PUS10 studied for Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641

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