ClinVar Miner

List of variants reported as pathogenic for Peroxisome biogenesis disorder 11A (Zellweger) by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NC_000002.12:g.60947640_61094952del
NM_002618.4(PEX13):c.107_120del (p.Gly36fs)	rs2104803129
NM_002618.4(PEX13):c.702G>A (p.Trp234Ter)	rs104893661

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