ClinVar Miner

List of variants in gene PEX6 reported as pathogenic for Peroxisome biogenesis disorders, Zellweger syndrome spectrum

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Total variants: 26
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HGVS dbSNP
NC_000006.12:g.(?_42968280)_(42979253_?)del
NC_000006.12:g.(?_42974865)_(42975048_?)del
NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter)
NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter)
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.1688+1G>T
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter) rs781475201
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter)
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter) rs201306028
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.233_234GC[2] (p.Leu80fs)
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240
NM_000287.4(PEX6):c.2364_2365del (p.Phe789Cysfs) rs755716911
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) rs62653602
NM_000287.4(PEX6):c.2439del (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.4(PEX6):c.2667-2A>C rs267608249
NM_000287.4(PEX6):c.383_384GA[1] (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.517del (p.Ser173fs) rs61753212
NM_000287.4(PEX6):c.656del (p.Gln219fs)
NM_000287.4(PEX6):c.685_686AG[4] (p.Ser232fs) rs398123305
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219

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