ClinVar Miner

List of variants in gene PEX13 reported as uncertain significance for Peroxisome biogenesis disorder 11A (Zellweger)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 263
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HGVS dbSNP gnomAD frequency
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.*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.*1961T>C rs771587917 0.00102
NM_002618.4(PEX13):c.*216T>C rs146980377 0.00063
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.*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.*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.*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.677G>A (p.Arg226Gln) rs775953595 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.*2550G>A rs544817238 0.00004
NM_002618.4(PEX13):c.*3038A>T rs886056211 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.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.*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.320G>A (p.Arg107His) rs766710343 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.767C>T (p.Thr256Ile) rs985608709 0.00002
NM_002618.4(PEX13):c.881G>A (p.Arg294Gln) rs377426614 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.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.1070A>G (p.Asn357Ser) rs144300539 0.00001
NM_002618.4(PEX13):c.1094C>T (p.Thr365Met) rs769398640 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.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.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.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.464A>G (p.Tyr155Cys) rs1298522041 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.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.905C>G (p.Ala302Gly) rs770549469 0.00001
NM_002618.4(PEX13):c.913+5T>G rs1380556679 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
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.1075A>G (p.Thr359Ala)
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.1097T>C (p.Val366Ala) rs1441442802
NM_002618.4(PEX13):c.1127C>A (p.Ala376Asp) rs1412376429
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.1143T>A (p.Phe381Leu) rs1680750260
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.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.1205A>G (p.Asp402Gly)
NM_002618.4(PEX13):c.121A>G (p.Thr41Ala) rs757604504
NM_002618.4(PEX13):c.135A>T (p.Gln45His)
NM_002618.4(PEX13):c.151G>A (p.Val51Met) rs2104803197
NM_002618.4(PEX13):c.163A>G (p.Ile55Val)
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.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.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.302A>G (p.Asn101Ser) rs1680451583
NM_002618.4(PEX13):c.307C>G (p.Leu103Val) rs767987790
NM_002618.4(PEX13):c.314A>G (p.Tyr105Cys)
NM_002618.4(PEX13):c.326G>C (p.Arg109Pro) rs372193938
NM_002618.4(PEX13):c.340C>G (p.Pro114Ala)
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.417A>G (p.Ala139=) rs886056197
NM_002618.4(PEX13):c.419T>C (p.Phe140Ser)
NM_002618.4(PEX13):c.431G>T (p.Ser144Ile) rs762747711
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.475A>G (p.Arg159Gly) rs2104803471
NM_002618.4(PEX13):c.478G>C (p.Ala160Pro) rs1559035602
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.508C>A (p.Arg170=) rs553968959
NM_002618.4(PEX13):c.520C>T (p.His174Tyr)
NM_002618.4(PEX13):c.529_531del (p.Lys177del) rs1680456530
NM_002618.4(PEX13):c.556A>T (p.Arg186Trp) rs2104803544
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.566G>A (p.Arg189Gln) rs777179456
NM_002618.4(PEX13):c.566G>T (p.Arg189Leu) rs777179456
NM_002618.4(PEX13):c.568T>C (p.Tyr190His) rs2104803558
NM_002618.4(PEX13):c.590G>A (p.Arg197Gln)
NM_002618.4(PEX13):c.594G>A (p.Met198Ile) rs1388373241
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.618G>C (p.Glu206Asp) rs1680458661
NM_002618.4(PEX13):c.625G>T (p.Asp209Tyr)
NM_002618.4(PEX13):c.629T>C (p.Leu210Pro)
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.662T>G (p.Leu221Arg) rs1475093874
NM_002618.4(PEX13):c.696A>C (p.Lys232Asn) rs1680460565
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.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.745C>T (p.Leu249Phe) rs2104803738
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.787G>C (p.Asp263His) rs766753038
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.815A>G (p.Asp272Gly) rs2104812700
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.867A>C (p.Glu289Asp)
NM_002618.4(PEX13):c.871A>G (p.Ile291Val) rs1444535263
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.913+1G>T
NM_002618.4(PEX13):c.913+3A>G rs2104812816
NM_002618.4(PEX13):c.955G>C (p.Asp319His)
NM_002618.4(PEX13):c.95C>A (p.Ser32Tyr)
NM_002618.4(PEX13):c.965C>T (p.Thr322Ile) rs920607306
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.98C>A (p.Ala33Asp) rs1458042764
NM_002618.4(PEX13):c.995A>G (p.Lys332Arg) rs1234870387

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