ClinVar Miner

List of variants in gene PEX6 studied for Inborn genetic diseases

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031 0.00024
NM_000287.4(PEX6):c.1303C>A (p.Pro435Thr) rs115186444 0.00020
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000287.4(PEX6):c.2906G>A (p.Arg969Gln) rs374426032 0.00004
NM_000287.4(PEX6):c.870G>C (p.Glu290Asp) rs150358700 0.00004
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000287.4(PEX6):c.2672A>G (p.Lys891Arg) rs886044685 0.00002
NM_000287.4(PEX6):c.1290G>T (p.Trp430Cys) rs1457151665 0.00001
NM_000287.4(PEX6):c.1747G>A (p.Val583Met) rs750996699 0.00001
NM_000287.4(PEX6):c.1817G>A (p.Arg606Gln) rs780239941 0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000287.4(PEX6):c.188G>A (p.Gly63Asp) rs1770439751 0.00001
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln) rs746117128 0.00001
NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) rs267608228 0.00001
NM_000287.4(PEX6):c.625C>T (p.Arg209Trp) rs749292690 0.00001
NM_000287.4(PEX6):c.1013A>G (p.Asp338Gly)
NM_000287.4(PEX6):c.1123C>G (p.Leu375Val)
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu) rs773054165
NM_000287.4(PEX6):c.1559G>A (p.Arg520His)
NM_000287.4(PEX6):c.1741G>A (p.Ala581Thr) rs1316254924
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys) rs375288192
NM_000287.4(PEX6):c.191C>T (p.Thr64Ile)
NM_000287.4(PEX6):c.1924A>G (p.Ser642Gly)
NM_000287.4(PEX6):c.193G>A (p.Glu65Lys)
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr) rs61752141
NM_000287.4(PEX6):c.2464A>G (p.Met822Val)
NM_000287.4(PEX6):c.2500G>A (p.Asp834Asn)
NM_000287.4(PEX6):c.2572C>T (p.Leu858Phe)
NM_000287.4(PEX6):c.2663G>T (p.Arg888Leu) rs267608247
NM_000287.4(PEX6):c.2724G>T (p.Gln908His)
NM_000287.4(PEX6):c.2908T>C (p.Tyr970His)
NM_000287.4(PEX6):c.335T>C (p.Leu112Pro)
NM_000287.4(PEX6):c.49C>T (p.Pro17Ser)
NM_000287.4(PEX6):c.742C>T (p.Arg248Cys)
NM_000287.4(PEX6):c.751C>G (p.Leu251Val) rs769332435
NM_000287.4(PEX6):c.751C>T (p.Leu251Phe)

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