ClinVar Miner

List of variants in gene PEX13 studied for Peroxisome biogenesis disorder 11A (Zellweger)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 450
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002618.4(PEX13):c.*358G>A rs1177230 0.98833
NM_002618.4(PEX13):c.*2147A>G rs2564097 0.66023
NM_002618.4(PEX13):c.*952C>T rs56739127 0.29127
NM_002618.4(PEX13):c.*1194G>A rs75205376 0.13689
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038 0.02423
NM_002618.4(PEX13):c.*775G>A rs143032208 0.02272
NM_002618.4(PEX13):c.*1652G>A rs72877535 0.01126
NM_002618.4(PEX13):c.*1943G>A rs183689971 0.00973
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308 0.00690
NM_002618.4(PEX13):c.*2356T>C rs139999174 0.00416
NM_002618.4(PEX13):c.*956G>T rs141215166 0.00300
NM_002618.4(PEX13):c.*383A>T rs149099359 0.00290
NM_002618.4(PEX13):c.*944C>T rs148184159 0.00287
NM_002618.4(PEX13):c.*3012A>G rs144691386 0.00283
NM_002618.4(PEX13):c.*1724A>T rs137932203 0.00282
NM_002618.4(PEX13):c.*3106T>C rs148515938 0.00183
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348 0.00181
NM_002618.4(PEX13):c.893T>C (p.Met298Thr) rs138545154 0.00110
NM_002618.4(PEX13):c.*357T>C rs138236564 0.00108
NM_002618.4(PEX13):c.1044T>C (p.Val348=) rs151304822 0.00106
NM_002618.4(PEX13):c.*1961T>C rs771587917 0.00102
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr) rs150161574 0.00096
NM_002618.4(PEX13):c.141A>G (p.Ala47=) rs79842991 0.00075
NM_002618.4(PEX13):c.*216T>C rs146980377 0.00063
NM_002618.4(PEX13):c.913+15A>G rs185304365 0.00060
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys) rs143972531 0.00058
NM_002618.4(PEX13):c.*1649C>T rs1042646135 0.00047
NM_002618.4(PEX13):c.*1998T>C rs559684247 0.00046
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr) rs145568490 0.00043
NM_002618.4(PEX13):c.*263A>T rs558525565 0.00040
NM_002618.4(PEX13):c.*1416G>T rs573040186 0.00039
NM_002618.4(PEX13):c.226A>G (p.Ser76Gly) rs148296743 0.00039
NM_002618.4(PEX13):c.*1377G>A rs536283006 0.00035
NM_002618.4(PEX13):c.*446A>G rs554737021 0.00034
NM_002618.4(PEX13):c.*803A>G rs561112537 0.00030
NM_002618.4(PEX13):c.*90A>G rs535967834 0.00030
NM_002618.4(PEX13):c.*962G>A rs931059778 0.00029
NM_002618.4(PEX13):c.*2495A>T rs777198802 0.00023
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe) rs60203778 0.00022
NM_002618.4(PEX13):c.354T>C (p.Phe118=) rs143378216 0.00021
NM_002618.4(PEX13):c.*3126A>G rs745626475 0.00017
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) rs201699810 0.00017
NM_002618.4(PEX13):c.*2159T>C rs886056206 0.00016
NM_002618.4(PEX13):c.984G>A (p.Ala328=) rs144086063 0.00015
NM_002618.4(PEX13):c.*813G>C rs781689721 0.00014
NM_002618.4(PEX13):c.*1174A>T rs182453488 0.00012
NM_002618.4(PEX13):c.*1376C>T rs927046080 0.00012
NM_002618.4(PEX13):c.*2296G>A rs886056208 0.00011
NM_002618.4(PEX13):c.*1005C>A rs375607663 0.00009
NM_002618.4(PEX13):c.*2229C>T rs1048932355 0.00009
NM_002618.4(PEX13):c.*851A>G rs917019488 0.00009
NM_002618.4(PEX13):c.113C>A (p.Thr38Asn) rs763566050 0.00009
NM_002618.4(PEX13):c.278A>G (p.Tyr93Cys) rs200211896 0.00009
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro) rs202077756 0.00009
NM_002618.4(PEX13):c.1180A>T (p.Ile394Phe) rs376560254 0.00006
NM_002618.4(PEX13):c.408T>A (p.Ile136=) rs145776973 0.00006
NM_002618.4(PEX13):c.677G>A (p.Arg226Gln) rs775953595 0.00006
NM_002618.4(PEX13):c.750T>C (p.Ile250=) rs765039738 0.00006
NM_002618.4(PEX13):c.913+19G>A rs189410109 0.00006
NM_002618.4(PEX13):c.*170C>G rs77041272 0.00005
NM_002618.4(PEX13):c.580C>T (p.Arg194Trp) rs774157693 0.00005
NM_002618.4(PEX13):c.661C>G (p.Leu221Val) rs192034592 0.00005
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_002618.4(PEX13):c.93-18A>C rs773183074 0.00005
NM_002618.4(PEX13):c.*2550G>A rs544817238 0.00004
NM_002618.4(PEX13):c.*3038A>T rs886056211 0.00004
NM_002618.4(PEX13):c.156C>T (p.Pro52=) rs562629125 0.00004
NM_002618.4(PEX13):c.270T>C (p.Tyr90=) rs946922546 0.00004
NM_002618.4(PEX13):c.294T>C (p.Tyr98=) rs762328486 0.00004
NM_002618.4(PEX13):c.326G>A (p.Arg109His) rs372193938 0.00004
NM_002618.4(PEX13):c.353T>A (p.Phe118Tyr) rs749542687 0.00004
NM_002618.4(PEX13):c.435G>A (p.Met145Ile) rs1345774394 0.00004
NM_002618.4(PEX13):c.*1283C>G rs886056201 0.00003
NM_002618.4(PEX13):c.*1564C>G rs886056203 0.00003
NM_002618.4(PEX13):c.*1566A>T rs886056204 0.00003
NM_002618.4(PEX13):c.*2368T>C rs1033146733 0.00003
NM_002618.4(PEX13):c.*2642T>C rs886056209 0.00003
NM_002618.4(PEX13):c.1030G>A (p.Glu344Lys) rs550755703 0.00003
NM_002618.4(PEX13):c.126A>G (p.Arg42=) rs781477994 0.00003
NM_002618.4(PEX13):c.199A>C (p.Ser67Arg) rs752073595 0.00003
NM_002618.4(PEX13):c.269A>G (p.Tyr90Cys) rs200928725 0.00003
NM_002618.4(PEX13):c.599G>A (p.Gly200Asp) rs753698277 0.00003
NM_002618.4(PEX13):c.787+12G>A rs371678615 0.00003
NM_002618.4(PEX13):c.914-4T>A rs774237731 0.00003
NM_002618.4(PEX13):c.*1533G>C rs886056202 0.00002
NM_002618.4(PEX13):c.*1925C>T rs1050392536 0.00002
NM_002618.4(PEX13):c.*2422T>G rs958254103 0.00002
NM_002618.4(PEX13):c.*3050C>T rs1246216348 0.00002
NM_002618.4(PEX13):c.1093A>G (p.Thr365Ala) rs753444647 0.00002
NM_002618.4(PEX13):c.1136C>T (p.Ser379Phe) rs758388660 0.00002
NM_002618.4(PEX13):c.205A>T (p.Asn69Tyr) rs1338444377 0.00002
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser) rs367843599 0.00002
NM_002618.4(PEX13):c.285T>G (p.Pro95=) rs749465384 0.00002
NM_002618.4(PEX13):c.320G>A (p.Arg107His) rs766710343 0.00002
NM_002618.4(PEX13):c.378C>T (p.Ser126=) rs939500739 0.00002
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter) rs553968959 0.00002
NM_002618.4(PEX13):c.589C>T (p.Arg197Trp) rs903847229 0.00002
NM_002618.4(PEX13):c.595T>A (p.Leu199Ile) rs565873587 0.00002
NM_002618.4(PEX13):c.759A>G (p.Leu253=) rs752467884 0.00002
NM_002618.4(PEX13):c.767C>T (p.Thr256Ile) rs985608709 0.00002
NM_002618.4(PEX13):c.881G>A (p.Arg294Gln) rs377426614 0.00002
NM_002618.4(PEX13):c.914-16C>G rs987622142 0.00002
NM_002618.4(PEX13):c.914-5A>G rs374011561 0.00002
NM_002618.4(PEX13):c.931C>T (p.Arg311Cys) rs376720470 0.00002
NM_002618.4(PEX13):c.932G>A (p.Arg311His) rs147344836 0.00002
NM_002618.4(PEX13):c.*2168A>T rs886056207 0.00001
NM_002618.4(PEX13):c.*2234A>G rs1358607905 0.00001
NM_002618.4(PEX13):c.*2581A>T rs895620341 0.00001
NM_002618.4(PEX13):c.*2749C>G rs888853893 0.00001
NM_002618.4(PEX13):c.*298G>C rs886056199 0.00001
NM_002618.4(PEX13):c.*3216C>G rs780132052 0.00001
NM_002618.4(PEX13):c.*895C>T rs979509871 0.00001
NM_002618.4(PEX13):c.*953G>A rs1339051481 0.00001
NM_002618.4(PEX13):c.1000C>A (p.Leu334Ile) rs149581494 0.00001
NM_002618.4(PEX13):c.1011A>G (p.Arg337=) rs779659827 0.00001
NM_002618.4(PEX13):c.1014A>G (p.Lys338=) rs748712609 0.00001
NM_002618.4(PEX13):c.1019G>C (p.Arg340Thr) rs755008779 0.00001
NM_002618.4(PEX13):c.103T>A (p.Leu35Met) rs752671523 0.00001
NM_002618.4(PEX13):c.1053G>C (p.Gln351His) rs759524829 0.00001
NM_002618.4(PEX13):c.1058A>G (p.Gln353Arg) rs755510406 0.00001
NM_002618.4(PEX13):c.1059A>G (p.Gln353=) rs892266553 0.00001
NM_002618.4(PEX13):c.1070A>G (p.Asn357Ser) rs144300539 0.00001
NM_002618.4(PEX13):c.1094C>T (p.Thr365Met) rs769398640 0.00001
NM_002618.4(PEX13):c.1095G>A (p.Thr365=) rs754460647 0.00001
NM_002618.4(PEX13):c.1132G>A (p.Glu378Lys) rs1167111884 0.00001
NM_002618.4(PEX13):c.1144G>C (p.Val382Leu) rs886044219 0.00001
NM_002618.4(PEX13):c.1158G>A (p.Lys386=) rs371789976 0.00001
NM_002618.4(PEX13):c.116T>C (p.Leu39Ser) rs1351769986 0.00001
NM_002618.4(PEX13):c.1183G>A (p.Gly395Arg) rs1337201612 0.00001
NM_002618.4(PEX13):c.122C>T (p.Thr41Ile) rs1282669816 0.00001
NM_002618.4(PEX13):c.130G>A (p.Gly44Arg) rs1281056404 0.00001
NM_002618.4(PEX13):c.139G>A (p.Ala47Thr) rs1292631867 0.00001
NM_002618.4(PEX13):c.154C>A (p.Pro52Thr) rs1210739309 0.00001
NM_002618.4(PEX13):c.166C>T (p.Leu56Phe) rs1292485549 0.00001
NM_002618.4(PEX13):c.201dup (p.Val68fs) rs1288976071 0.00001
NM_002618.4(PEX13):c.217C>G (p.Pro73Ala) rs767895802 0.00001
NM_002618.4(PEX13):c.241G>A (p.Gly81Arg) rs892846278 0.00001
NM_002618.4(PEX13):c.257G>A (p.Gly86Glu) rs752312334 0.00001
NM_002618.4(PEX13):c.276C>T (p.Gly92=) rs770117657 0.00001
NM_002618.4(PEX13):c.307C>T (p.Leu103=) rs767987790 0.00001
NM_002618.4(PEX13):c.311G>A (p.Gly104Asp) rs773664586 0.00001
NM_002618.4(PEX13):c.319C>T (p.Arg107Cys) rs776824458 0.00001
NM_002618.4(PEX13):c.322C>T (p.Leu108Phe) rs138030119 0.00001
NM_002618.4(PEX13):c.374G>A (p.Ser125Asn) rs748193136 0.00001
NM_002618.4(PEX13):c.381G>A (p.Arg127=) rs772627459 0.00001
NM_002618.4(PEX13):c.403A>T (p.Ser135Cys) rs1357787046 0.00001
NM_002618.4(PEX13):c.409G>A (p.Val137Met) rs768438349 0.00001
NM_002618.4(PEX13):c.433A>G (p.Met145Val) rs1345860074 0.00001
NM_002618.4(PEX13):c.450C>T (p.Thr150=) rs1228236816 0.00001
NM_002618.4(PEX13):c.464A>G (p.Tyr155Cys) rs1298522041 0.00001
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter) rs369851185 0.00001
NM_002618.4(PEX13):c.493G>A (p.Ala165Thr) rs1481858907 0.00001
NM_002618.4(PEX13):c.500A>G (p.His167Arg) rs1336772620 0.00001
NM_002618.4(PEX13):c.509G>A (p.Arg170Gln) rs779100414 0.00001
NM_002618.4(PEX13):c.534G>T (p.Val178=) rs1162525817 0.00001
NM_002618.4(PEX13):c.565C>T (p.Arg189Trp) rs771451906 0.00001
NM_002618.4(PEX13):c.569A>G (p.Tyr190Cys) rs763396088 0.00001
NM_002618.4(PEX13):c.581G>A (p.Arg194Gln) rs761487103 0.00001
NM_002618.4(PEX13):c.592A>T (p.Met198Leu) rs760577554 0.00001
NM_002618.4(PEX13):c.611G>A (p.Gly204Asp) rs752948360 0.00001
NM_002618.4(PEX13):c.620A>C (p.Asn207Thr) rs1316575619 0.00001
NM_002618.4(PEX13):c.659G>A (p.Cys220Tyr) rs988856957 0.00001
NM_002618.4(PEX13):c.691G>A (p.Ala231Thr) rs1471254251 0.00001
NM_002618.4(PEX13):c.762G>A (p.Leu254=) rs1282121871 0.00001
NM_002618.4(PEX13):c.777T>C (p.Asp259=) rs781350418 0.00001
NM_002618.4(PEX13):c.788-8G>A rs1680695333 0.00001
NM_002618.4(PEX13):c.831C>T (p.Ala277=) rs751807871 0.00001
NM_002618.4(PEX13):c.905C>G (p.Ala302Gly) rs770549469 0.00001
NM_002618.4(PEX13):c.913+5T>G rs1380556679 0.00001
NM_002618.4(PEX13):c.914-8T>G rs769302153 0.00001
NM_002618.4(PEX13):c.939G>A (p.Trp313Ter) rs1428782325 0.00001
NM_002618.4(PEX13):c.94T>C (p.Ser32Pro) rs759610758 0.00001
NM_002618.4(PEX13):c.961C>G (p.Gln321Glu) rs765658938 0.00001
NM_002618.4(PEX13):c.967A>C (p.Thr323Pro) rs753122073 0.00001
NM_002618.4(PEX13):c.968C>T (p.Thr323Ile) rs1559047077 0.00001
NM_002618.4(PEX13):c.999T>C (p.Ile333=) rs750110664 0.00001
NC_000002.11:g.(?_61258534)_(61275905_?)del
NC_000002.11:g.(?_61272841)_(61275905_?)del
NC_000002.11:g.(?_61272841)_(61275905_?)dup
NM_002618.4(PEX13):c.*1480C>G rs1680773967
NM_002618.4(PEX13):c.*1654T>G rs1680777877
NM_002618.4(PEX13):c.*2111A>C rs1680786136
NM_002618.4(PEX13):c.*2236A>C rs146108177
NM_002618.4(PEX13):c.*233G>T rs886056198
NM_002618.4(PEX13):c.*2537T>C rs1680795269
NM_002618.4(PEX13):c.*2918A>G rs1680801956
NM_002618.4(PEX13):c.*318G>C rs1573562372
NM_002618.4(PEX13):c.*436T>C rs1680757708
NM_002618.4(PEX13):c.*676A>G rs886056200
NM_002618.4(PEX13):c.1003G>A (p.Gly335Ser) rs1680746099
NM_002618.4(PEX13):c.1003G>C (p.Gly335Arg) rs1680746099
NM_002618.4(PEX13):c.1027G>A (p.Val343Met) rs1680746493
NM_002618.4(PEX13):c.1033T>A (p.Ser345Thr) rs2104814598
NM_002618.4(PEX13):c.1037G>A (p.Ser346Asn)
NM_002618.4(PEX13):c.1040A>G (p.Lys347Arg) rs2104814606
NM_002618.4(PEX13):c.1042G>A (p.Val348Ile)
NM_002618.4(PEX13):c.1042G>C (p.Val348Leu) rs1680746855
NM_002618.4(PEX13):c.1045T>C (p.Ser349Pro) rs747286284
NM_002618.4(PEX13):c.1046C>T (p.Ser349Phe) rs1367527916
NM_002618.4(PEX13):c.1049A>G (p.Lys350Arg) rs1052212655
NM_002618.4(PEX13):c.1052A>G (p.Gln351Arg)
NM_002618.4(PEX13):c.1058A>T (p.Gln353Leu)
NM_002618.4(PEX13):c.1071C>G (p.Asn357Lys) rs1371570388
NM_002618.4(PEX13):c.1071C>T (p.Asn357=)
NM_002618.4(PEX13):c.1075A>G (p.Thr359Ala)
NM_002618.4(PEX13):c.1077A>G (p.Thr359=)
NM_002618.4(PEX13):c.107_120del (p.Gly36fs) rs2104803129
NM_002618.4(PEX13):c.1080A>G (p.Leu360=) rs2104814664
NM_002618.4(PEX13):c.1083T>G (p.Thr361=) rs2104814667
NM_002618.4(PEX13):c.1084A>G (p.Lys362Glu)
NM_002618.4(PEX13):c.1088G>A (p.Gly363Glu)
NM_002618.4(PEX13):c.1090G>A (p.Ala364Thr) rs550344775
NM_002618.4(PEX13):c.1090G>T (p.Ala364Ser) rs550344775
NM_002618.4(PEX13):c.1097T>C (p.Val366Ala) rs1441442802
NM_002618.4(PEX13):c.1104T>C (p.Asp368=)
NM_002618.4(PEX13):c.1127C>A (p.Ala376Asp) rs1412376429
NM_002618.4(PEX13):c.1131T>C (p.Phe377=)
NM_002618.4(PEX13):c.1132G>C (p.Glu378Gln) rs1167111884
NM_002618.4(PEX13):c.1138G>T (p.Val380Phe)
NM_002618.4(PEX13):c.113C>T (p.Thr38Ile)
NM_002618.4(PEX13):c.1140T>G (p.Val380=)
NM_002618.4(PEX13):c.1143T>A (p.Phe381Leu) rs1680750260
NM_002618.4(PEX13):c.1149A>G (p.Glu383=) rs2104814749
NM_002618.4(PEX13):c.1151C>G (p.Thr384Ser) rs1680750357
NM_002618.4(PEX13):c.1158G>C (p.Lys386Asn) rs371789976
NM_002618.4(PEX13):c.1159G>A (p.Val387Ile)
NM_002618.4(PEX13):c.115T>G (p.Leu39Val)
NM_002618.4(PEX13):c.1163C>T (p.Pro388Leu) rs1203618499
NM_002618.4(PEX13):c.1169C>T (p.Ala390Val)
NM_002618.4(PEX13):c.1180A>G (p.Ile394Val)
NM_002618.4(PEX13):c.1186A>G (p.Lys396Glu) rs749088744
NM_002618.4(PEX13):c.1188A>G (p.Lys396=)
NM_002618.4(PEX13):c.1191T>C (p.Asp397=)
NM_002618.4(PEX13):c.1193G>A (p.Gly398Glu) rs1680751404
NM_002618.4(PEX13):c.1199A>T (p.Lys400Met)
NM_002618.4(PEX13):c.119T>C (p.Met40Thr)
NM_002618.4(PEX13):c.1203A>G (p.Gln401=) rs2104814800
NM_002618.4(PEX13):c.1205A>G (p.Asp402Gly)
NM_002618.4(PEX13):c.121A>G (p.Thr41Ala) rs757604504
NM_002618.4(PEX13):c.123A>G (p.Thr41=)
NM_002618.4(PEX13):c.124A>C (p.Arg42=)
NM_002618.4(PEX13):c.132A>G (p.Gly44=)
NM_002618.4(PEX13):c.135A>G (p.Gln45=)
NM_002618.4(PEX13):c.135A>T (p.Gln45His)
NM_002618.4(PEX13):c.138A>G (p.Pro46=)
NM_002618.4(PEX13):c.145dup (p.Thr49fs)
NM_002618.4(PEX13):c.147C>A (p.Thr49=)
NM_002618.4(PEX13):c.147C>T (p.Thr49=)
NM_002618.4(PEX13):c.148del (p.Arg50fs)
NM_002618.4(PEX13):c.151G>A (p.Val51Met) rs2104803197
NM_002618.4(PEX13):c.159_160del (p.Pro54fs) rs2104803205
NM_002618.4(PEX13):c.163A>G (p.Ile55Val)
NM_002618.4(PEX13):c.174G>A (p.Arg58=)
NM_002618.4(PEX13):c.193A>G (p.Ser65Gly) rs886056196
NM_002618.4(PEX13):c.202G>A (p.Val68Met) rs1553423403
NM_002618.4(PEX13):c.204G>C (p.Val68=)
NM_002618.4(PEX13):c.204G>T (p.Val68=)
NM_002618.4(PEX13):c.206A>G (p.Asn69Ser)
NM_002618.4(PEX13):c.208A>G (p.Thr70Ala)
NM_002618.4(PEX13):c.209C>G (p.Thr70Ser) rs2104803233
NM_002618.4(PEX13):c.219T>C (p.Pro73=)
NM_002618.4(PEX13):c.222T>C (p.Ala74=)
NM_002618.4(PEX13):c.239C>T (p.Ser80Phe)
NM_002618.4(PEX13):c.254A>G (p.Tyr85Cys)
NM_002618.4(PEX13):c.268T>G (p.Tyr90Asp)
NM_002618.4(PEX13):c.275G>A (p.Gly92Asp) rs745620818
NM_002618.4(PEX13):c.283C>T (p.Pro95Ser) rs1680451211
NM_002618.4(PEX13):c.289A>G (p.Ser97Gly)
NM_002618.4(PEX13):c.296G>T (p.Gly99Val)
NM_002618.4(PEX13):c.297A>G (p.Gly99=)
NM_002618.4(PEX13):c.300T>C (p.Tyr100=) rs2104803312
NM_002618.4(PEX13):c.302A>G (p.Asn101Ser) rs1680451583
NM_002618.4(PEX13):c.307C>G (p.Leu103Val) rs767987790
NM_002618.4(PEX13):c.309G>T (p.Leu103=)
NM_002618.4(PEX13):c.314A>G (p.Tyr105Cys)
NM_002618.4(PEX13):c.318C>T (p.Asn106=) rs2104803339
NM_002618.4(PEX13):c.321C>A (p.Arg107=) rs1245330810
NM_002618.4(PEX13):c.326G>C (p.Arg109Pro) rs372193938
NM_002618.4(PEX13):c.340C>G (p.Pro114Ala)
NM_002618.4(PEX13):c.342A>G (p.Pro114=)
NM_002618.4(PEX13):c.345C>T (p.Pro115=) rs2104803376
NM_002618.4(PEX13):c.348T>C (p.Ser116=)
NM_002618.4(PEX13):c.366T>C (p.Ala122=) rs2104803394
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter) rs2104803395
NM_002618.4(PEX13):c.379A>T (p.Arg127Trp) rs1224323223
NM_002618.4(PEX13):c.382G>C (p.Gly128Arg)
NM_002618.4(PEX13):c.382G>T (p.Gly128Cys)
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771
NM_002618.4(PEX13):c.387A>C (p.Ala129=)
NM_002618.4(PEX13):c.391C>T (p.Gln131Ter)
NM_002618.4(PEX13):c.417A>G (p.Ala139=) rs886056197
NM_002618.4(PEX13):c.419T>C (p.Phe140Ser)
NM_002618.4(PEX13):c.423C>G (p.Ala141=)
NM_002618.4(PEX13):c.423C>T (p.Ala141=)
NM_002618.4(PEX13):c.426T>A (p.Ser142=)
NM_002618.4(PEX13):c.431G>T (p.Ser144Ile) rs762747711
NM_002618.4(PEX13):c.431del (p.Ser144fs)
NM_002618.4(PEX13):c.447T>C (p.Ala149=)
NM_002618.4(PEX13):c.448A>G (p.Thr150Ala)
NM_002618.4(PEX13):c.458C>T (p.Ala153Val) rs2104803452
NM_002618.4(PEX13):c.460G>A (p.Val154Ile) rs2104803454
NM_002618.4(PEX13):c.463T>C (p.Tyr155His) rs2104803455
NM_002618.4(PEX13):c.465T>C (p.Tyr155=)
NM_002618.4(PEX13):c.468C>T (p.Asn156=)
NM_002618.4(PEX13):c.475A>G (p.Arg159Gly) rs2104803471
NM_002618.4(PEX13):c.478G>C (p.Ala160Pro) rs1559035602
NM_002618.4(PEX13):c.484T>C (p.Leu162=)
NM_002618.4(PEX13):c.487G>C (p.Asp163His) rs969985837
NM_002618.4(PEX13):c.488A>T (p.Asp163Val) rs2104803479
NM_002618.4(PEX13):c.499del (p.His167fs) rs2104803491
NM_002618.4(PEX13):c.504T>C (p.Phe168=)
NM_002618.4(PEX13):c.507C>A (p.Ser169=)
NM_002618.4(PEX13):c.507C>T (p.Ser169=)
NM_002618.4(PEX13):c.508C>A (p.Arg170=) rs553968959
NM_002618.4(PEX13):c.510A>G (p.Arg170=)
NM_002618.4(PEX13):c.511T>C (p.Leu171=)
NM_002618.4(PEX13):c.520C>T (p.His174Tyr)
NM_002618.4(PEX13):c.529_531del (p.Lys177del) rs1680456530
NM_002618.4(PEX13):c.540A>C (p.Ser180=)
NM_002618.4(PEX13):c.549A>G (p.Ala183=)
NM_002618.4(PEX13):c.556A>T (p.Arg186Trp) rs2104803544
NM_002618.4(PEX13):c.558G>A (p.Arg186=)
NM_002618.4(PEX13):c.561T>C (p.Thr187=) rs1442600682
NM_002618.4(PEX13):c.562A>G (p.Ile188Val) rs1360784990
NM_002618.4(PEX13):c.563T>C (p.Ile188Thr) rs2104803547
NM_002618.4(PEX13):c.564A>C (p.Ile188=)
NM_002618.4(PEX13):c.566G>A (p.Arg189Gln) rs777179456
NM_002618.4(PEX13):c.566G>T (p.Arg189Leu) rs777179456
NM_002618.4(PEX13):c.567G>A (p.Arg189=)
NM_002618.4(PEX13):c.568T>C (p.Tyr190His) rs2104803558
NM_002618.4(PEX13):c.579A>G (p.Arg193=) rs2104803563
NM_002618.4(PEX13):c.580C>A (p.Arg194=) rs774157693
NM_002618.4(PEX13):c.585A>G (p.Leu195=)
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter) rs1559035738
NM_002618.4(PEX13):c.590G>A (p.Arg197Gln)
NM_002618.4(PEX13):c.591G>A (p.Arg197=) rs2104803591
NM_002618.4(PEX13):c.594G>A (p.Met198Ile) rs1388373241
NM_002618.4(PEX13):c.596T>G (p.Leu199Ter)
NM_002618.4(PEX13):c.605G>A (p.Arg202Lys) rs1336466520
NM_002618.4(PEX13):c.610G>A (p.Gly204Ser) rs2104803612
NM_002618.4(PEX13):c.611G>C (p.Gly204Ala)
NM_002618.4(PEX13):c.612C>T (p.Gly204=) rs2104803616
NM_002618.4(PEX13):c.618G>C (p.Glu206Asp) rs1680458661
NM_002618.4(PEX13):c.624A>G (p.Glu208=) rs2104803624
NM_002618.4(PEX13):c.625G>T (p.Asp209Tyr)
NM_002618.4(PEX13):c.629T>C (p.Leu210Pro)
NM_002618.4(PEX13):c.633G>A (p.Trp211Ter)
NM_002618.4(PEX13):c.640A>G (p.Ser214Gly) rs2104803638
NM_002618.4(PEX13):c.641G>C (p.Ser214Thr) rs1207829224
NM_002618.4(PEX13):c.647G>C (p.Gly216Ala)
NM_002618.4(PEX13):c.648A>G (p.Gly216=)
NM_002618.4(PEX13):c.657A>G (p.Ala219=)
NM_002618.4(PEX13):c.660C>T (p.Cys220=)
NM_002618.4(PEX13):c.662T>G (p.Leu221Arg) rs1475093874
NM_002618.4(PEX13):c.669T>C (p.Ala223=)
NM_002618.4(PEX13):c.672G>A (p.Glu224=)
NM_002618.4(PEX13):c.676C>T (p.Arg226Ter)
NM_002618.4(PEX13):c.684T>G (p.Ala228=) rs2104803682
NM_002618.4(PEX13):c.696A>C (p.Lys232Asn) rs1680460565
NM_002618.4(PEX13):c.702G>A (p.Trp234Ter) rs104893661
NM_002618.4(PEX13):c.705A>G (p.Pro235=)
NM_002618.4(PEX13):c.705A>T (p.Pro235=)
NM_002618.4(PEX13):c.706A>G (p.Ile236Val) rs1292217685
NM_002618.4(PEX13):c.712T>G (p.Leu238Val) rs1680460970
NM_002618.4(PEX13):c.714G>A (p.Leu238=)
NM_002618.4(PEX13):c.716T>C (p.Phe239Ser)
NM_002618.4(PEX13):c.719T>G (p.Phe240Cys)
NM_002618.4(PEX13):c.723T>A (p.Ala241=) rs1205501080
NM_002618.4(PEX13):c.727A>G (p.Ile243Val)
NM_002618.4(PEX13):c.729C>T (p.Ile243=)
NM_002618.4(PEX13):c.735T>A (p.Gly245=)
NM_002618.4(PEX13):c.738T>C (p.Gly246=)
NM_002618.4(PEX13):c.744C>G (p.Tyr248Ter)
NM_002618.4(PEX13):c.744C>T (p.Tyr248=)
NM_002618.4(PEX13):c.745C>T (p.Leu249Phe) rs2104803738
NM_002618.4(PEX13):c.759A>T (p.Leu253=)
NM_002618.4(PEX13):c.759_760del (p.Leu254fs)
NM_002618.4(PEX13):c.769C>T (p.His257Tyr)
NM_002618.4(PEX13):c.774T>A (p.Ser258Arg)
NM_002618.4(PEX13):c.778G>C (p.Glu260Gln)
NM_002618.4(PEX13):c.787+10C>T
NM_002618.4(PEX13):c.787+12G>T
NM_002618.4(PEX13):c.787+16G>A
NM_002618.4(PEX13):c.787+1G>A rs2104803776
NM_002618.4(PEX13):c.787G>C (p.Asp263His) rs766753038
NM_002618.4(PEX13):c.788-5T>C rs561624639
NM_002618.4(PEX13):c.788-7C>T
NM_002618.4(PEX13):c.788-9G>C
NM_002618.4(PEX13):c.801G>A (p.Trp267Ter)
NM_002618.4(PEX13):c.802G>A (p.Ala268Thr) rs762797895
NM_002618.4(PEX13):c.805A>G (p.Ser269Gly)
NM_002618.4(PEX13):c.806G>C (p.Ser269Thr) rs2104812693
NM_002618.4(PEX13):c.807T>C (p.Ser269=)
NM_002618.4(PEX13):c.815A>G (p.Asp272Gly) rs2104812700
NM_002618.4(PEX13):c.828T>C (p.Val276=)
NM_002618.4(PEX13):c.829dup (p.Ala277fs) rs2104812709
NM_002618.4(PEX13):c.832A>C (p.Arg278=)
NM_002618.4(PEX13):c.838G>C (p.Glu280Gln)
NM_002618.4(PEX13):c.845A>G (p.Asp282Gly) rs1573560642
NM_002618.4(PEX13):c.846T>G (p.Asp282Glu)
NM_002618.4(PEX13):c.847T>G (p.Phe283Val) rs1680696228
NM_002618.4(PEX13):c.848T>C (p.Phe283Ser)
NM_002618.4(PEX13):c.853G>C (p.Ala285Pro) rs2104812755
NM_002618.4(PEX13):c.855C>T (p.Ala285=) rs1438696242
NM_002618.4(PEX13):c.855del (p.Val286fs)
NM_002618.4(PEX13):c.867A>C (p.Glu289Asp)
NM_002618.4(PEX13):c.871A>G (p.Ile291Val) rs1444535263
NM_002618.4(PEX13):c.871del (p.Ile291fs)
NM_002618.4(PEX13):c.872T>C (p.Ile291Thr)
NM_002618.4(PEX13):c.883G>T (p.Ala295Ser)
NM_002618.4(PEX13):c.892A>T (p.Met298Leu) rs2104812788
NM_002618.4(PEX13):c.903A>G (p.Leu301=)
NM_002618.4(PEX13):c.913+11A>G
NM_002618.4(PEX13):c.913+13G>A
NM_002618.4(PEX13):c.913+1G>T
NM_002618.4(PEX13):c.913+3A>G rs2104812816
NM_002618.4(PEX13):c.913+8A>G
NM_002618.4(PEX13):c.914-10T>C
NM_002618.4(PEX13):c.914-12T>C rs1015226405
NM_002618.4(PEX13):c.914-16_914-15insA
NM_002618.4(PEX13):c.914-17T>G
NM_002618.4(PEX13):c.914-18G>A
NM_002618.4(PEX13):c.914-19T>G
NM_002618.4(PEX13):c.914-6C>T rs2104814454
NM_002618.4(PEX13):c.914-7C>T
NM_002618.4(PEX13):c.914-8dup rs36090948
NM_002618.4(PEX13):c.915A>G (p.Glu305=)
NM_002618.4(PEX13):c.921A>G (p.Gln307=)
NM_002618.4(PEX13):c.93-11T>C
NM_002618.4(PEX13):c.93-12T>A
NM_002618.4(PEX13):c.93-1G>A
NM_002618.4(PEX13):c.93-3dup rs2104803114
NM_002618.4(PEX13):c.93-8G>C
NM_002618.4(PEX13):c.942T>A (p.Leu314=)
NM_002618.4(PEX13):c.943C>T (p.Leu315=)
NM_002618.4(PEX13):c.955G>C (p.Asp319His)
NM_002618.4(PEX13):c.957T>C (p.Asp319=)
NM_002618.4(PEX13):c.95C>A (p.Ser32Tyr)
NM_002618.4(PEX13):c.963A>G (p.Gln321=)
NM_002618.4(PEX13):c.965C>T (p.Thr322Ile) rs920607306
NM_002618.4(PEX13):c.969A>G (p.Thr323=)
NM_002618.4(PEX13):c.96T>A (p.Ser32=)
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr) rs61752115
NM_002618.4(PEX13):c.978A>G (p.Ile326Met) rs1680745437
NM_002618.4(PEX13):c.980C>T (p.Pro327Leu) rs1680745521
NM_002618.4(PEX13):c.981T>C (p.Pro327=)
NM_002618.4(PEX13):c.984G>T (p.Ala328=) rs144086063
NM_002618.4(PEX13):c.98C>A (p.Ala33Asp) rs1458042764
NM_002618.4(PEX13):c.990T>C (p.Tyr330=)
NM_002618.4(PEX13):c.995A>G (p.Lys332Arg) rs1234870387

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.