ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 4B by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1183G>A (p.Gly395Arg)
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala) rs1561823098
NM_000287.4(PEX6):c.2125G>A (p.Gly709Arg) rs1254717257
NM_000287.4(PEX6):c.2273C>A (p.Ala758Asp)

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