ClinVar Miner

List of variants reported as pathogenic for Peroxisome biogenesis disorder 4A (Zellweger) by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)	rs267608216
NM_000287.4(PEX6):c.1947del (p.Ile650fs)	rs267608227
NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)

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