ClinVar Miner

List of variants in gene PEX6 reported as pathogenic for not provided

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Total variants: 11
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HGVS dbSNP
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter) rs886044436
NM_000287.4(PEX6):c.1336_1337TG[1] (p.Ala447fs) rs398123303
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)
NM_000287.4(PEX6):c.2406del (p.Phe802fs) rs1554126965
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.4(PEX6):c.684dup (p.Arg229fs) rs886043908
NM_000287.4(PEX6):c.685_686AG[4] (p.Ser232fs) rs398123305

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