ClinVar Miner

List of variants in gene PEX6 studied for abdominal and pelvic region disorder

Included ClinVar conditions (962):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 208
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HGVS dbSNP
NC_000006.12:g.(?_42968280)_(42979253_?)del
NC_000006.12:g.(?_42974865)_(42975048_?)del
NM_000287.3(PEX6):c.-39G>A rs76974379
NM_000287.3(PEX6):c.-55C>T rs9462859
NM_000287.3(PEX6):c.-62C>A rs886061413
NM_000287.3(PEX6):c.-71C>G rs886061414
NM_000287.3(PEX6):c.-79C>T rs186587060
NM_000287.4(PEX6):c.*168C>T rs886061410
NM_000287.4(PEX6):c.*212C>T rs1051218
NM_000287.4(PEX6):c.*319C>T rs736158
NM_000287.4(PEX6):c.*343G>C
NM_000287.4(PEX6):c.*368G>A rs866465109
NM_000287.4(PEX6):c.*407T>G rs886061409
NM_000287.4(PEX6):c.*438_*441TAAA[1] rs144286892
NM_000287.4(PEX6):c.1014C>T (p.Asp338=) rs140806942
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915
NM_000287.4(PEX6):c.1046+1G>A rs1554127968
NM_000287.4(PEX6):c.1047-4G>T rs748779475
NM_000287.4(PEX6):c.106C>A (p.Leu36Met)
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004
NM_000287.4(PEX6):c.1082C>T (p.Thr361Ile)
NM_000287.4(PEX6):c.1085T>C (p.Ile362Thr)
NM_000287.4(PEX6):c.1092A>G (p.Gln364=)
NM_000287.4(PEX6):c.1110A>G (p.Gly370=) rs886061411
NM_000287.4(PEX6):c.1130+1G>A rs267608213
NM_000287.4(PEX6):c.1130+2T>C rs1416001981
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552
NM_000287.4(PEX6):c.1152_1154del (p.Val385del)
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys) rs150046979
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn) rs535326039
NM_000287.4(PEX6):c.1225T>C (p.Leu409=) rs1243719850
NM_000287.4(PEX6):c.1226T>C (p.Leu409Ser)
NM_000287.4(PEX6):c.1233+1G>A rs763459576
NM_000287.4(PEX6):c.1234-10C>T rs370661410
NM_000287.4(PEX6):c.1234-11A>G rs201879957
NM_000287.4(PEX6):c.1234-1G>T rs1554127533
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu)
NM_000287.4(PEX6):c.1301del (p.Ser434fs) rs62641231
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1335C>G (p.Leu445=) rs142958800
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter) rs1356280167
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup) rs1421584986
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.1365A>G (p.Pro455=) rs759402659
NM_000287.4(PEX6):c.1367+10G>A
NM_000287.4(PEX6):c.1368-2del rs1554127415
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala) rs182308788
NM_000287.4(PEX6):c.1405C>T (p.Arg469Trp) rs757334412
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala) rs1561823098
NM_000287.4(PEX6):c.1415C>T (p.Pro472Leu)
NM_000287.4(PEX6):c.141G>C (p.Pro47=) rs1464923917
NM_000287.4(PEX6):c.1440_1442TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.1479+2del rs1554127383
NM_000287.4(PEX6):c.1479+7G>A rs528161793
NM_000287.4(PEX6):c.1480-5C>T rs376473597
NM_000287.4(PEX6):c.1491C>T (p.Ser497=) rs79238506
NM_000287.4(PEX6):c.1512T>C (p.Ser504=) rs1013102900
NM_000287.4(PEX6):c.1550G>A (p.Arg517Gln) rs371782808
NM_000287.4(PEX6):c.1558C>T (p.Arg520Cys)
NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro) rs387906809
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp) rs368752843
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln) rs138431842
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159
NM_000287.4(PEX6):c.1680C>T (p.Pro560=) rs372998833
NM_000287.4(PEX6):c.1688+1G>A rs112298166
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro) rs61752140
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val) rs146416679
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys) rs375288192
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.1821C>T (p.Ala607=) rs201730259
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083
NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln) rs79351868
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter) rs781475201
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.1962-1G>A rs267608229
NM_000287.4(PEX6):c.2010C>T (p.Ala670=) rs759328524
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser) rs752644254
NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del) rs1162020526
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter) rs201306028
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp) rs748535121
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2094+1G>A rs1581760572
NM_000287.4(PEX6):c.2094+4G>C
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308
NM_000287.4(PEX6):c.219G>A (p.Gln73=) rs191944205
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro) rs267608235
NM_000287.4(PEX6):c.2229T>C (p.His743=) rs145849057
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser) rs1244339215
NM_000287.4(PEX6):c.231C>A (p.Ser77Arg)
NM_000287.4(PEX6):c.233_234GC[2] (p.Leu80fs)
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr) rs61752141
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.2362+1G>A rs1443107232
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515
NM_000287.4(PEX6):c.2364_2365del (p.Phe789Cysfs) rs755716911
NM_000287.4(PEX6):c.2399T>C (p.Ile800Thr)
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229
NM_000287.4(PEX6):c.2436G>A (p.Arg812=) rs61732156
NM_000287.4(PEX6):c.2439del (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2439dup (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.4(PEX6):c.2471+5G>T
NM_000287.4(PEX6):c.2472-2A>G rs267608242
NM_000287.4(PEX6):c.247C>G (p.Leu83Val)
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala) rs187435179
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr)
NM_000287.4(PEX6):c.2547C>T (p.Asn849=)
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup) rs1554128546
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855
NM_000287.4(PEX6):c.2601G>T (p.Leu867=)
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246
NM_000287.4(PEX6):c.2642G>A (p.Arg881His)
NM_000287.4(PEX6):c.2643C>T (p.Arg881=) rs150853105
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516
NM_000287.4(PEX6):c.2667-2A>C rs267608249
NM_000287.4(PEX6):c.2692del (p.Leu898fs) rs1554126798
NM_000287.4(PEX6):c.2697A>G (p.Val899=)
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104
NM_000287.4(PEX6):c.2730G>A (p.Thr910=) rs774721609
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup) rs61752142
NM_000287.4(PEX6):c.2764_2765del (p.Met922fs) rs1554126781
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839
NM_000287.4(PEX6):c.2806+1G>A rs751900826
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr) rs774145857
NM_000287.4(PEX6):c.2867C>T (p.Ala956Val) rs200115671
NM_000287.4(PEX6):c.2877A>G (p.Gln959=) rs562040179
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu)
NM_000287.4(PEX6):c.2928G>A (p.Lys976=) rs1230978438
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp) rs772383329
NM_000287.4(PEX6):c.2T>G (p.Met1Arg) rs1554128597
NM_000287.4(PEX6):c.302C>G (p.Pro101Arg)
NM_000287.4(PEX6):c.306G>T (p.Ala102=) rs727504083
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.4(PEX6):c.372G>C (p.Leu124=) rs752732049
NM_000287.4(PEX6):c.383_384GA[1] (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858
NM_000287.4(PEX6):c.39G>A (p.Pro13=) rs908372737
NM_000287.4(PEX6):c.402C>T (p.Pro134=) rs773371109
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs) rs1554128488
NM_000287.4(PEX6):c.407C>A (p.Pro136Gln) rs376824422
NM_000287.4(PEX6):c.410G>C (p.Arg137Pro)
NM_000287.4(PEX6):c.411G>A (p.Arg137=) rs769196737
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs) rs1554128586
NM_000287.4(PEX6):c.462del (p.Leu155fs) rs1554128476
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031
NM_000287.4(PEX6):c.49C>A (p.Pro17Thr)
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu) rs200026148
NM_000287.4(PEX6):c.504_505AG[1] (p.Glu169fs) rs1554128461
NM_000287.4(PEX6):c.510_511del (p.Asp172fs) rs61753211
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.517del (p.Ser173fs) rs61753212
NM_000287.4(PEX6):c.532C>T (p.Pro178Ser)
NM_000287.4(PEX6):c.541_543GTG[1] (p.Val182del) rs1554128449
NM_000287.4(PEX6):c.548_550CCT[1] (p.Ser184del) rs1554128446
NM_000287.4(PEX6):c.621_882+2del rs1554128347
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.657G>A (p.Gln219=) rs375588028
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.4(PEX6):c.669G>C (p.Val223=) rs899965642
NM_000287.4(PEX6):c.681G>A (p.Gln227=)
NM_000287.4(PEX6):c.685A>G (p.Arg229Gly) rs146571927
NM_000287.4(PEX6):c.690G>A (p.Glu230=) rs368341252
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr) rs886061412
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200
NM_000287.4(PEX6):c.753C>A (p.Leu251=) rs898341197
NM_000287.4(PEX6):c.76G>C (p.Gly26Arg)
NM_000287.4(PEX6):c.781C>T (p.Pro261Ser) rs758866060
NM_000287.4(PEX6):c.802_815del (p.Asp268fs) rs63749004
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676
NM_000287.4(PEX6):c.819C>T (p.Val273=) rs748814053
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220
NM_000287.4(PEX6):c.870G>C (p.Glu290Asp) rs150358700
NM_000287.4(PEX6):c.882+8A>G rs368663953
NM_000287.4(PEX6):c.883-3T>C rs9986447
NM_000287.4(PEX6):c.883-8T>C rs777174653
NM_000287.4(PEX6):c.939T>C (p.Pro313=) rs151234121
NM_000287.4(PEX6):c.969C>T (p.Ile323=) rs143001881
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys) rs201678533
PEX6, 1-BP INS, NT511
PEX6, 20-BP DEL/1-BP INS
PEX6, 269-BP DEL/21-BP INS
PEX6, IVSAS, G-A, -1, 8-BP DEL

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