ClinVar Miner

List of variants in gene PEX6 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1961+20G>A rs2274514 0.56870
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_000287.3(PEX6):c.-55C>T rs9462859 0.40581
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000287.4(PEX6):c.2891dup (p.Gln965fs) rs753862792 0.00005
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs) rs1408438094 0.00001
NM_000287.4(PEX6):c.1231A>G (p.Met411Val) rs752177240 0.00001
NM_000287.4(PEX6):c.1233+1G>A rs763459576 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.517del (p.Ser173fs) rs61753212 0.00001
NM_000287.4(PEX6):c.10_69del (p.Ala4_Leu23del)
NM_000287.4(PEX6):c.1130+4T>C
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
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.1409G>C (p.Gly470Ala) rs1561823098
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp) rs769896492
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.2364_2365del rs755716911
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) rs62653602
NM_000287.4(PEX6):c.2552C>G (p.Pro851Arg) rs2114237567
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter) rs61753215
NM_000287.4(PEX6):c.802_815del (p.Asp268fs) rs63749004

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