ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 4A (Zellweger) by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000287.4(PEX6):c.1262G>A (p.Trp421Ter)
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216

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