ClinVar Miner

List of variants in gene PEX6 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 131
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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_000287.4(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.207C>T (p.Pro69=) rs11539736 0.02141
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004 0.00363
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000287.4(PEX6):c.882+15_882+16del rs555409430 0.00189
NM_000287.4(PEX6):c.2436G>A (p.Arg812=) rs61732156 0.00178
NM_000287.4(PEX6):c.685A>G (p.Arg229Gly) rs146571927 0.00176
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys) rs150046979 0.00175
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159 0.00093
NM_000287.4(PEX6):c.1491C>T (p.Ser497=) rs79238506 0.00079
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_000287.4(PEX6):c.1014C>T (p.Asp338=) rs140806942 0.00039
NM_000287.4(PEX6):c.1335C>G (p.Leu445=) rs142958800 0.00039
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val) rs146416679 0.00039
NM_000287.4(PEX6):c.-2C>G rs376675730 0.00036
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982 0.00030
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855 0.00029
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104 0.00029
NM_000287.4(PEX6):c.1884+3G>A rs377041406 0.00026
NM_000287.4(PEX6):c.306G>T (p.Ala102=) rs727504083 0.00026
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.2531T>C (p.Val844Ala) rs187435179 0.00019
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu) rs139093654 0.00016
NM_000287.4(PEX6):c.2867C>T (p.Ala956Val) rs200115671 0.00014
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp) rs368752843 0.00012
NM_000287.4(PEX6):c.2783G>A (p.Arg928His) rs201265954 0.00010
NM_000287.4(PEX6):c.643C>A (p.Leu215Ile) rs865933425 0.00010
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg) rs199697021 0.00010
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln) rs138431842 0.00009
NM_000287.4(PEX6):c.2104G>A (p.Val702Met) rs377421228 0.00007
NM_000287.4(PEX6):c.219G>A (p.Gln73=) rs191944205 0.00007
NM_000287.4(PEX6):c.1550G>A (p.Arg517Gln) rs371782808 0.00006
NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln) rs79351868 0.00005
NM_000287.4(PEX6):c.2459G>A (p.Gly820Glu) rs558030547 0.00005
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552 0.00004
NM_000287.4(PEX6):c.1206C>T (p.Ala402=) rs756358409 0.00004
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230 0.00004
NM_000287.4(PEX6):c.2906G>A (p.Arg969Gln) rs374426032 0.00004
NM_000287.4(PEX6):c.807A>G (p.Gly269=) rs774117516 0.00004
NM_000287.4(PEX6):c.870G>C (p.Glu290Asp) rs150358700 0.00004
NM_000287.4(PEX6):c.1405C>T (p.Arg469Trp) rs757334412 0.00003
NM_000287.4(PEX6):c.1455T>C (p.Ser485=) rs749798782 0.00003
NM_000287.4(PEX6):c.185C>T (p.Ala62Val) rs991131935 0.00003
NM_000287.4(PEX6):c.2493C>T (p.Ala831=) rs775778545 0.00003
NM_000287.4(PEX6):c.465G>C (p.Leu155=) rs1187015124 0.00003
NM_000287.4(PEX6):c.781C>T (p.Pro261Ser) rs758866060 0.00003
NM_000287.4(PEX6):c.1047-4G>T rs748779475 0.00002
NM_000287.4(PEX6):c.106C>T (p.Leu36=) rs758416830 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000287.4(PEX6):c.2672A>G (p.Lys891Arg) rs886044685 0.00002
NM_000287.4(PEX6):c.2746T>C (p.Ser916Pro) rs370031396 0.00002
NM_000287.4(PEX6):c.367C>T (p.Leu123=) rs758218388 0.00002
NM_000287.4(PEX6):c.1231A>G (p.Met411Val) rs752177240 0.00001
NM_000287.4(PEX6):c.1313T>C (p.Leu438Pro) rs778025463 0.00001
NM_000287.4(PEX6):c.1362G>A (p.Gln454=) rs1360001006 0.00001
NM_000287.4(PEX6):c.1417G>A (p.Gly473Ser) rs774874010 0.00001
NM_000287.4(PEX6):c.1511G>A (p.Ser504Asn) rs770340288 0.00001
NM_000287.4(PEX6):c.1531C>T (p.Leu511=) rs147567606 0.00001
NM_000287.4(PEX6):c.1688+3A>G rs111397663 0.00001
NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) rs267608228 0.00001
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp) rs748535121 0.00001
NM_000287.4(PEX6):c.2094+6G>A rs1009420665 0.00001
NM_000287.4(PEX6):c.2148G>A (p.Glu716=) rs766104579 0.00001
NM_000287.4(PEX6):c.2182C>T (p.Pro728Ser) rs577794661 0.00001
NM_000287.4(PEX6):c.2615C>T (p.Ala872Val) rs183208634 0.00001
NM_000287.4(PEX6):c.2667-4A>G rs1561819184 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000287.4(PEX6):c.2885T>C (p.Val962Ala) rs1361796630 0.00001
NM_000287.4(PEX6):c.332C>T (p.Ser111Leu) rs1561831118 0.00001
NM_000287.4(PEX6):c.348C>T (p.Leu116=) rs746578841 0.00001
NM_000287.4(PEX6):c.407C>A (p.Pro136Gln) rs376824422 0.00001
NM_000287.4(PEX6):c.686G>A (p.Arg229Lys) rs1260446318 0.00001
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200 0.00001
NM_000287.4(PEX6):c.757G>A (p.Asp253Asn) rs1259137255 0.00001
NM_000287.4(PEX6):c.759T>C (p.Asp253=) rs374342179 0.00001
NM_000287.4(PEX6):c.762A>G (p.Arg254=) rs777826616 0.00001
NM_000287.4(PEX6):c.1137G>A (p.Arg379=) rs766574538
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter) rs886044436
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn) rs886043987
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.123G>A (p.Arg41=) rs1561831496
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000287.4(PEX6):c.1368G>A (p.Gly456=) rs763725671
NM_000287.4(PEX6):c.1550G>C (p.Arg517Pro) rs371782808
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys) rs375288192
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln) rs375288192
NM_000287.4(PEX6):c.1823T>C (p.Leu608Pro) rs1561821635
NM_000287.4(PEX6):c.1928G>T (p.Ser643Ile) rs1554127125
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.1979C>T (p.Thr660Ile) rs1561820916
NM_000287.4(PEX6):c.2008G>T (p.Ala670Ser) rs1268182518
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.2282G>A (p.Cys761Tyr) rs1366185915
NM_000287.4(PEX6):c.2301-5_2301-2del rs748032659
NM_000287.4(PEX6):c.2350A>G (p.Asn784Asp) rs929525105
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) rs62653602
NM_000287.4(PEX6):c.240G>A (p.Leu80=) rs1554128547
NM_000287.4(PEX6):c.2619T>C (p.Asn873=) rs886043369
NM_000287.4(PEX6):c.2667-10C>A rs1554126803
NM_000287.4(PEX6):c.2717C>T (p.Pro906Leu) rs1561819096
NM_000287.4(PEX6):c.2882C>T (p.Ser961Leu) rs886043724
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.363G>A (p.Gly121=) rs1282410534
NM_000287.4(PEX6):c.382G>A (p.Gly128Arg) rs1554128505
NM_000287.4(PEX6):c.446T>A (p.Leu149Gln) rs1561830810
NM_000287.4(PEX6):c.4G>A (p.Ala2Thr) rs748585216
NM_000287.4(PEX6):c.574C>G (p.Arg192Gly) rs1403841138
NM_000287.4(PEX6):c.612A>G (p.Ser204=) rs886043877
NM_000287.4(PEX6):c.684dup (p.Arg229fs) rs886043908
NM_000287.4(PEX6):c.689_690dup (p.Ser232fs) rs398123305
NM_000287.4(PEX6):c.697A>G (p.Asn233Asp) rs374452739
NM_000287.4(PEX6):c.855C>A (p.Pro285=) rs757897959
NM_000287.4(PEX6):c.896G>C (p.Gly299Ala) rs548459114
NM_000287.4(PEX6):c.969C>T (p.Ile323=) rs143001881
NM_000287.4(PEX6):c.988C>T (p.His330Tyr) rs1561827871

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