ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 4A (Zellweger) by Centogene AG - the Rare Disease Company

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp) rs368752843 0.00012
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003

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