ClinVar Miner

List of variants reported for Peroxisome biogenesis disorder 1A (Zellweger) by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) rs794729652

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