ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 4A (Zellweger) by Genome-Nilou Lab

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.2667-48G>A rs2274517 0.57547
NM_000287.4(PEX6):c.1961+20G>A rs2274514 0.56870
NM_000287.4(PEX6):c.1885-24G>A rs3818554 0.56866
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys) rs750452619 0.00006

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