ClinVar Miner

List of variants in gene PEX6 reported as uncertain significance for Peroxisome biogenesis disorder 4B

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys) rs750452619 0.00006
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr) rs774145857 0.00003
NM_000287.4(PEX6):c.1183G>A (p.Gly395Arg)
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)
NM_000287.4(PEX6):c.2125G>A (p.Gly709Arg) rs1254717257
NM_000287.4(PEX6):c.2273C>A (p.Ala758Asp)

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