ClinVar Miner

List of variants reported as likely pathogenic for Zellweger spectrum disorders

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 557
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00006
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000288.4(PEX7):c.116A>C (p.His39Pro) rs61753237 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln) rs724160001 0.00003
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln) rs61753231 0.00002
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr) rs374549180 0.00002
NM_000466.3(PEX1):c.130-1G>T rs1028247729 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_002617.4(PEX10):c.113-1G>A rs867305222 0.00002
NM_002617.4(PEX10):c.1A>G (p.Met1Val) rs886041314 0.00002
NM_002617.4(PEX10):c.868C>G (p.His290Asp) rs61752094 0.00002
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894 0.00001
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) rs767447750 0.00001
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter) rs1056238409 0.00001
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter) rs888633730 0.00001
NM_000286.3(PEX12):c.680+1G>A rs904972651 0.00001
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs) rs1408438094 0.00001
NM_000287.4(PEX6):c.1130+2T>C rs1416001981 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.1234-1G>T rs1554127533 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser) rs1244339215 0.00001
NM_000287.4(PEX6):c.2362+1G>A rs1443107232 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000287.4(PEX6):c.2806+1G>A rs751900826 0.00001
NM_000287.4(PEX6):c.406_407insT (p.Pro136fs) rs1561830903 0.00001
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter) rs1224562361 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.180G>A (p.Trp60Ter) rs1408895107 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.1A>T (p.Met1Leu) rs1057517501 0.00001
NM_000466.3(PEX1):c.2071+1G>T rs267608177 0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409 0.00001
NM_000466.3(PEX1):c.2583+1G>T rs771586413 0.00001
NM_000466.3(PEX1):c.2719-1G>A rs1791673946 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.2926+2T>C rs267608180 0.00001
NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro) rs1484321655 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408 0.00001
NM_001127649.3(PEX26):c.667+2T>C rs267608191 0.00001
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter) rs61750434 0.00001
NM_002617.4(PEX10):c.776+2T>C rs1335685844 0.00001
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe) rs1414973726 0.00001
NM_002617.4(PEX10):c.913-2A>C rs758250423 0.00001
NM_002857.4(PEX19):c.346+1G>A rs75072667 0.00001
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) rs1057523689 0.00001
NM_003846.3(PEX11B):c.1A>G (p.Met1Val) rs782262926 0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) rs781984979 0.00001
NM_004813.4(PEX16):c.679C>T (p.Arg227Trp) rs1064794320 0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) rs769772100 0.00001
NC_000001.10:g.(?_2337205)_(2338414_?)del
NC_000006.11:g.(?_137187765)_(137191141_?)dup
NC_000006.11:g.(?_137191125)_(137199715_?)del
NC_000006.11:g.(?_42931601)_(42937735_?)del
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del) rs267608184
NM_000286.3(PEX12):c.126+2T>A rs1555549902
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
NM_000286.3(PEX12):c.190_194del (p.Thr64fs) rs1214971073
NM_000286.3(PEX12):c.1_2del (p.Met1fs) rs1555549923
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.3(PEX12):c.223_224del (p.Leu75fs) rs1555549876
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.329dup (p.Gln111fs)
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.363del (p.Leu122fs)
NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)
NM_000286.3(PEX12):c.445_454del (p.Ser149fs) rs1567730901
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.3(PEX12):c.511del (p.Glu171fs) rs945104524
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.644del (p.Pro215fs) rs1199283977
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter) rs1555549841
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) rs62642859
NM_000286.3(PEX12):c.687_690del (p.Ser229fs) rs1555549769
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) rs1238451790
NM_000286.3(PEX12):c.771del (p.Leu258fs) rs1555549754
NM_000286.3(PEX12):c.781del (p.Asp262fs) rs754193088
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) rs747099919
NM_000286.3(PEX12):c.808del (p.Gln270fs)
NM_000286.3(PEX12):c.876_877insTT (p.Asp293fs)
NM_000286.3(PEX12):c.88_89del (p.Met30fs) rs1555549909
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) rs398123302
NM_000286.3(PEX12):c.910_911del (p.Cys304fs) rs867245161
NM_000286.3(PEX12):c.920_921del (p.Cys307fs) rs2142228928
NM_000286.3(PEX12):c.961_964del (p.Gly321fs) rs749650201
NM_000286.3(PEX12):c.969_970del (p.Phe324fs) rs2072781707
NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter) rs941358133
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253
NM_000287.4(PEX6):c.1046+1G>A rs1554127968
NM_000287.4(PEX6):c.1046+1G>T
NM_000287.4(PEX6):c.1094del (p.Val365fs)
NM_000287.4(PEX6):c.1119del (p.Lys374fs)
NM_000287.4(PEX6):c.1127_1128del (p.Pro376fs)
NM_000287.4(PEX6):c.1130+1G>A rs267608213
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn) rs886043987
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)
NM_000287.4(PEX6):c.1234-2A>G rs2114247797
NM_000287.4(PEX6):c.1315del (p.Glu439fs)
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter) rs1356280167
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.1367+1G>A rs1769988075
NM_000287.4(PEX6):c.1367+2T>C
NM_000287.4(PEX6):c.1368-2del rs1554127415
NM_000287.4(PEX6):c.1402_1403del (p.Leu468fs)
NM_000287.4(PEX6):c.1415del (p.Pro472fs) rs267608219
NM_000287.4(PEX6):c.1479+1G>A
NM_000287.4(PEX6):c.1479+2del rs1554127383
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln) rs374396138
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del) rs1770436260
NM_000287.4(PEX6):c.1640_1641del (p.Val547fs)
NM_000287.4(PEX6):c.1689-1G>A rs267608223
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.1884+1G>A
NM_000287.4(PEX6):c.1885-1G>A
NM_000287.4(PEX6):c.1963_1965delinsCT (p.Ala656fs)
NM_000287.4(PEX6):c.2020_2022delinsGTCTCTTATACACATCTGT (p.Leu674fs)
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2094+1G>A rs1581760572
NM_000287.4(PEX6):c.2095-2A>G
NM_000287.4(PEX6):c.2124_2127del (p.Gly709fs)
NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs)
NM_000287.4(PEX6):c.2165_2166del (p.Gln722fs)
NM_000287.4(PEX6):c.2227del (p.His743fs)
NM_000287.4(PEX6):c.2265_2266insCTCCCCAGCCT (p.Ala756fs)
NM_000287.4(PEX6):c.2289del (p.Thr764fs)
NM_000287.4(PEX6):c.2313_2315delinsTGCCCCTCCCT (p.Glu772fs)
NM_000287.4(PEX6):c.2361del (p.Val788fs)
NM_000287.4(PEX6):c.2363-2A>C rs1769772582
NM_000287.4(PEX6):c.2363-2A>G
NM_000287.4(PEX6):c.2364_2365del rs755716911
NM_000287.4(PEX6):c.2435_2436delinsAA (p.Arg812Gln) rs2114238521
NM_000287.4(PEX6):c.2439dup (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2462del (p.Val821fs)
NM_000287.4(PEX6):c.2471+1G>A
NM_000287.4(PEX6):c.2472-1G>A
NM_000287.4(PEX6):c.2472-2A>G rs267608242
NM_000287.4(PEX6):c.2482C>T (p.Gln828Ter) rs267608243
NM_000287.4(PEX6):c.2563del (p.Asp855fs)
NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)
NM_000287.4(PEX6):c.2589-1G>A
NM_000287.4(PEX6):c.2589-1G>T rs2114237186
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro) rs267608247
NM_000287.4(PEX6):c.2666+1G>T rs2114236937
NM_000287.4(PEX6):c.2667-2A>G rs267608249
NM_000287.4(PEX6):c.2692del (p.Leu898fs) rs1554126798
NM_000287.4(PEX6):c.2T>G (p.Met1Arg) rs1554128597
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.385_388del (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs) rs1554128488
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs) rs1554128586
NM_000287.4(PEX6):c.462del (p.Leu155fs) rs1554128476
NM_000287.4(PEX6):c.506_507del (p.Glu169fs) rs1554128461
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.600del (p.Thr201fs)
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter) rs61753215
NM_000287.4(PEX6):c.872_873del (p.Leu291fs)
NM_000287.4(PEX6):c.883-2A>G
NM_000287.4(PEX6):c.883-6_887del
NM_000287.4(PEX6):c.890T>A (p.Leu297Ter)
NM_000287.4(PEX6):c.929C>T (p.Ser310Leu) rs2150236110
NM_000287.4(PEX6):c.954del (p.Arg319fs)
NM_000288.4(PEX7):c.131-1G>A rs2115129048
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+2del
NM_000288.4(PEX7):c.224G>A (p.Trp75Ter)
NM_000288.4(PEX7):c.257G>A (p.Cys86Tyr) rs61753240
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.284G>A (p.Trp95Ter)
NM_000288.4(PEX7):c.340-1G>T rs780751870
NM_000288.4(PEX7):c.361C>T (p.Gln121Ter)
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) rs764346452
NM_000288.4(PEX7):c.418-1G>C rs773406384
NM_000288.4(PEX7):c.468_471dup (p.Ile158fs)
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter) rs1173171051
NM_000288.4(PEX7):c.506GTT[1] (p.Cys170del)
NM_000288.4(PEX7):c.513del (p.Phe171fs)
NM_000288.4(PEX7):c.538_539del (p.Leu180fs) rs1582757650
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
NM_000288.4(PEX7):c.633+1G>A rs1057516989
NM_000288.4(PEX7):c.634-2A>G
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_000288.4(PEX7):c.747+1G>A
NM_000288.4(PEX7):c.747+2T>A
NM_000288.4(PEX7):c.747del (p.Lys249fs)
NM_000288.4(PEX7):c.748-2A>G rs778862698
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.803+1G>A
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln) rs267608257
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) rs61752119
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
NM_000318.3(PEX2):c.188dup (p.Trp65fs)
NM_000318.3(PEX2):c.197_198del (p.Arg66fs)
NM_000318.3(PEX2):c.218del (p.Asn73fs) rs1586070089
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter) rs1586070043
NM_000318.3(PEX2):c.233dup (p.Ser79fs)
NM_000318.3(PEX2):c.253dup (p.Tyr85fs)
NM_000318.3(PEX2):c.260del (p.Asn87fs)
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter) rs200065382
NM_000318.3(PEX2):c.310del (p.Ile104fs)
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
NM_000318.3(PEX2):c.325dup (p.Cys109fs) rs1052655986
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.34_37del (p.Asn12fs) rs1174648906
NM_000318.3(PEX2):c.352del (p.Glu118fs)
NM_000318.3(PEX2):c.354_355del (p.Arg119fs) rs1554584505
NM_000318.3(PEX2):c.395_396del (p.Phe132fs)
NM_000318.3(PEX2):c.472del (p.Leu158fs) rs1554584487
NM_000318.3(PEX2):c.502_503del (p.Glu168fs) rs1554584474
NM_000318.3(PEX2):c.521_524del (p.His174fs)
NM_000318.3(PEX2):c.550delinsCC (p.Cys184fs)
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
NM_000318.3(PEX2):c.661_676dup (p.Pro226fs)
NM_000318.3(PEX2):c.791_795del (p.Cys264fs)
NM_000318.3(PEX2):c.807_808insT (p.Ser270Ter)
NM_000318.3(PEX2):c.831delinsGTTTCTTA (p.Tyr277Ter)
NM_000318.3(PEX2):c.834_838del (p.Phe278fs) rs267608188
NM_000466.3(PEX1):c.1074_1075del (p.Lys359fs) rs1057517488
NM_000466.3(PEX1):c.1076del (p.Lys359fs) rs1057517465
NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter)
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer) rs1057517520
NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter)
NM_000466.3(PEX1):c.1239+1G>A rs756876301
NM_000466.3(PEX1):c.129+1G>A rs2116298327
NM_000466.3(PEX1):c.130-1G>C rs1028247729
NM_000466.3(PEX1):c.130-2A>T rs1585260993
NM_000466.3(PEX1):c.1321del (p.Ile441fs)
NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter) rs1585248089
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs) rs1792596054
NM_000466.3(PEX1):c.1359+1G>C
NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter)
NM_000466.3(PEX1):c.1374_1375delinsA (p.Ser458fs)
NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter) rs1554373801
NM_000466.3(PEX1):c.1439del (p.Leu480fs) rs1554373787
NM_000466.3(PEX1):c.1468_1469del (p.Leu490fs)
NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter)
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs) rs786204743
NM_000466.3(PEX1):c.1522dup (p.Glu508fs) rs1057517463
NM_000466.3(PEX1):c.1527del (p.Glu510fs) rs1057517497
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
NM_000466.3(PEX1):c.1533del (p.Asp512fs) rs2116205361
NM_000466.3(PEX1):c.1552_1553delinsA (p.Leu518fs)
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.1587+1G>T
NM_000466.3(PEX1):c.1587+2T>C rs1554373578
NM_000466.3(PEX1):c.1611del (p.Glu538fs)
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_000466.3(PEX1):c.1670+1G>T rs1057517490
NM_000466.3(PEX1):c.1696_1697del (p.Ser566fs)
NM_000466.3(PEX1):c.1716_1717del (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000466.3(PEX1):c.175_176del (p.Ser59fs)
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter) rs1057517489
NM_000466.3(PEX1):c.1769_1770del (p.Leu590fs)
NM_000466.3(PEX1):c.1793_1803+1del rs2116180739
NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter)
NM_000466.3(PEX1):c.1815dup (p.Ser606fs)
NM_000466.3(PEX1):c.1817C>A (p.Ser606Ter)
NM_000466.3(PEX1):c.1822_1823del (p.Leu608fs)
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs) rs1554372561
NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter)
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter)
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1890del (p.Ala631fs) rs2116175944
NM_000466.3(PEX1):c.1895del (p.Leu632fs)
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.3(PEX1):c.1900+1G>A rs770447891
NM_000466.3(PEX1):c.1900+2T>C rs1562857198
NM_000466.3(PEX1):c.1901-1G>T
NM_000466.3(PEX1):c.1901-2A>G
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter) rs1057517464
NM_000466.3(PEX1):c.1926_1927delinsC (p.Lys642fs) rs1057517529
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1927dup (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1961_1962insCAGTGTGAA (p.Met654delinsIleSerValLys)
NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs) rs1057517486
NM_000466.3(PEX1):c.1A>C (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.2034_2035del (p.His678fs) rs61750412
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
NM_000466.3(PEX1):c.2071+2T>C rs1478905473
NM_000466.3(PEX1):c.2072-1G>A
NM_000466.3(PEX1):c.2072-42_2085del rs1792018845
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.3(PEX1):c.2142_2143del (p.Gln715fs)
NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs) rs1057517499
NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter)
NM_000466.3(PEX1):c.2212_2213del (p.Gln738fs)
NM_000466.3(PEX1):c.2227-1G>C
NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter)
NM_000466.3(PEX1):c.2280_2281insG (p.Ile761fs)
NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs)
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2417-1G>T
NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter) rs1306607552
NM_000466.3(PEX1):c.2488_2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.249_250insT (p.Leu84fs) rs1793076195
NM_000466.3(PEX1):c.253G>T (p.Gly85Ter)
NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter) rs1057517470
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2718+1G>A
NM_000466.3(PEX1):c.2719-2A>G rs1554369234
NM_000466.3(PEX1):c.2723del (p.Pro908fs) rs1057517503
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.273+2T>G
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2770dup (p.Asp924fs)
NM_000466.3(PEX1):c.2783+2T>C rs1585224312
NM_000466.3(PEX1):c.2784-1G>C
NM_000466.3(PEX1):c.2798dup (p.Pro934fs) rs1057517484
NM_000466.3(PEX1):c.2822_2823del (p.Glu941fs) rs2116095487
NM_000466.3(PEX1):c.2849dup (p.His951fs)
NM_000466.3(PEX1):c.2852dup (p.His951fs) rs767877383
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2927-2A>G rs1057517531
NM_000466.3(PEX1):c.2932dup (p.Tyr978fs)
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.3003del (p.Lys1001fs)
NM_000466.3(PEX1):c.3031-1G>A
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs)
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3207+1G>C rs267608181
NM_000466.3(PEX1):c.3207+2C>A rs1554368097
NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs) rs1057517509
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs)
NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3308del (p.Gly1103fs)
NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) rs1585214453
NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer) rs1554367358
NM_000466.3(PEX1):c.3422del (p.Gly1141fs)
NM_000466.3(PEX1):c.3438+1G>A rs1554367284
NM_000466.3(PEX1):c.3438+1G>T rs1554367284
NM_000466.3(PEX1):c.3439-2A>G
NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.3455_3456dup (p.Ala1153fs) rs759183382
NM_000466.3(PEX1):c.348G>A (p.Trp116Ter) rs1057517487
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter) rs1057517480
NM_000466.3(PEX1):c.357+1G>A rs866144313
NM_000466.3(PEX1):c.357+1G>C rs866144313
NM_000466.3(PEX1):c.357+1G>T rs866144313
NM_000466.3(PEX1):c.357+202_1170del
NM_000466.3(PEX1):c.3573del (p.Glu1191fs) rs1585211048
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.358-2A>G rs1057517500
NM_000466.3(PEX1):c.3580_3581del (p.Asp1194fs) rs1160117945
NM_000466.3(PEX1):c.3622del (p.Arg1208fs) rs1791174009
NM_000466.3(PEX1):c.3626del (p.Ser1209fs) rs1554366766
NM_000466.3(PEX1):c.3637-1G>A
NM_000466.3(PEX1):c.3637-3_3637-1del rs2116039871
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) rs1473858573
NM_000466.3(PEX1):c.3G>A (p.Met1Ile) rs786204704
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) rs201415996
NM_000466.3(PEX1):c.431dup (p.Val145fs) rs1057517506
NM_000466.3(PEX1):c.472+1G>A rs762852144
NM_000466.3(PEX1):c.473-1G>A rs1554375661
NM_000466.3(PEX1):c.473-1G>C rs1554375661
NM_000466.3(PEX1):c.484C>A (p.Pro162Thr)
NM_000466.3(PEX1):c.496del (p.Tyr166fs)
NM_000466.3(PEX1):c.510_511insGTTATAAAATTTAT (p.Thr171fs)
NM_000466.3(PEX1):c.512_513delinsTTTAAACAAGCACTTCAAA (p.Thr171delinsIleTer)
NM_000466.3(PEX1):c.532_533del (p.Gln178fs)
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751
NM_000466.3(PEX1):c.573del (p.Ala192fs) rs1585255490
NM_000466.3(PEX1):c.629_630delinsA (p.Met210fs)
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.659C>A (p.Ser220Ter)
NM_000466.3(PEX1):c.66dup (p.Asn23fs)
NM_000466.3(PEX1):c.716C>G (p.Ser239Ter)
NM_000466.3(PEX1):c.734del (p.Leu245fs) rs1057517522
NM_000466.3(PEX1):c.757_758delinsA (p.Phe253fs)
NM_000466.3(PEX1):c.760dup (p.Ser254fs) rs1554375511
NM_000466.3(PEX1):c.805_806del (p.Glu269fs)
NM_000466.3(PEX1):c.892_895dup (p.Asn299delinsIleTer) rs1057517505
NM_000466.3(PEX1):c.911_912del (p.Ser304fs) rs786204638
NM_001127649.3(PEX26):c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG (p.Met1_Ser6delinsSerProProGlnGlyAlaArgGly)
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter) rs1556586479
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001127649.3(PEX26):c.256T>C (p.Cys86Arg)
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg) rs28940308
NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr) rs74315506
NM_001127649.3(PEX26):c.330C>G (p.Tyr110Ter)
NM_001127649.3(PEX26):c.349C>A (p.Pro117Thr) rs2123647622
NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg) rs61752135
NM_001127649.3(PEX26):c.354del (p.Val120fs) rs1926487809
NM_001127649.3(PEX26):c.361_362del (p.Leu121fs)
NM_001127649.3(PEX26):c.372-2A>G
NM_001127649.3(PEX26):c.379_380delinsGA (p.Leu127Glu)
NM_001127649.3(PEX26):c.394C>T (p.Gln132Ter)
NM_001127649.3(PEX26):c.468T>A (p.Tyr156Ter)
NM_001127649.3(PEX26):c.668-2A>G rs2123657331
NM_001127649.3(PEX26):c.71del (p.Pro24fs)
NM_001127649.3(PEX26):c.789_798del (p.Cys263fs) rs1926794975
NM_001127649.3(PEX26):c.814+1G>A
NM_001351132.2(PEX5):c.135_147+32del
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_001351132.2(PEX5):c.138del (p.Ser47fs)
NM_001351132.2(PEX5):c.147+2T>G
NM_001351132.2(PEX5):c.147+4A>G
NM_001351132.2(PEX5):c.1561-2A>G rs2136254229
NM_001351132.2(PEX5):c.317-2A>G rs2135903939
NM_001351132.2(PEX5):c.552-1G>A rs1064793563
NM_001351132.2(PEX5):c.753+1G>A
NM_001351132.2(PEX5):c.753+2T>C
NM_001351132.2(PEX5):c.754-2A>C
NM_001351132.2(PEX5):c.846+1G>A
NM_001351132.2(PEX5):c.847-2A>G
NM_001351132.2(PEX5):c.847-7_861del
NM_001351132.2(PEX5):c.966+1G>C rs2136176386
NM_001351132.2(PEX5):c.967-1G>A
NM_001351132.2(PEX5):c.967-1_971del
NM_002617.4(PEX10):c.113-1G>C
NM_002617.4(PEX10):c.125G>A (p.Trp42Ter)
NM_002617.4(PEX10):c.135G>A (p.Trp45Ter)
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
NM_002617.4(PEX10):c.142dup (p.Glu48fs)
NM_002617.4(PEX10):c.157_158del (p.Ser53fs) rs1384671249
NM_002617.4(PEX10):c.200A>G (p.Gln67Arg)
NM_002617.4(PEX10):c.20del (p.Ser7fs) rs1553232926
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter) rs531987102
NM_002617.4(PEX10):c.222_223del (p.Ser75fs)
NM_002617.4(PEX10):c.247_251del (p.Arg83fs)
NM_002617.4(PEX10):c.26del (p.Pro9fs) rs1553232917
NM_002617.4(PEX10):c.295del (p.His99fs) rs1557910651
NM_002617.4(PEX10):c.335_338del (p.Pro112fs) rs2100429450
NM_002617.4(PEX10):c.338del (p.Leu113fs) rs878853044
NM_002617.4(PEX10):c.346_363delinsTGGGCCCCTG (p.Glu116fs)
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs) rs2100429011
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
NM_002617.4(PEX10):c.424_425dup (p.Arg143fs)
NM_002617.4(PEX10):c.445_452del (p.Thr149fs)
NM_002617.4(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002617.4(PEX10):c.522_523del (p.Gln175fs)
NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)
NM_002617.4(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.4(PEX10):c.587del (p.Thr196fs)
NM_002617.4(PEX10):c.592del (p.Ile198fs)
NM_002617.4(PEX10):c.600+1del rs1553232077
NM_002617.4(PEX10):c.600C>G (p.Tyr200Ter)
NM_002617.4(PEX10):c.601-18dup
NM_002617.4(PEX10):c.601-24_601-23del rs1553231875
NM_002617.4(PEX10):c.601-26_601-25delinsCTC rs1553231888
NM_002617.4(PEX10):c.601-38_601-37del rs1553231896
NM_002617.4(PEX10):c.601-61G>A
NM_002617.4(PEX10):c.618del (p.Gly208fs)
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer) rs768893724
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter) rs1295555837
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
NM_002617.4(PEX10):c.755_756del (p.His252fs) rs1325771720
NM_002617.4(PEX10):c.761del (p.Gly254fs) rs1553231820
NM_002617.4(PEX10):c.773_776+17del
NM_002617.4(PEX10):c.776+1G>A
NM_002617.4(PEX10):c.776+1G>C rs869312935
NM_002617.4(PEX10):c.776+2T>A rs1335685844
NM_002617.4(PEX10):c.777-1G>A
NM_002617.4(PEX10):c.790G>T (p.Glu264Ter) rs769251149
NM_002617.4(PEX10):c.795_796del (p.Arg265fs) rs1553231787
NM_002617.4(PEX10):c.813_814del (p.Leu272fs)
NM_002617.4(PEX10):c.815del (p.Leu272fs) rs1553231783
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro) rs724160000
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) rs62641225
NM_002617.4(PEX10):c.844_848del (p.His282fs)
NM_002617.4(PEX10):c.868dup (p.His290fs)
NM_002617.4(PEX10):c.8del (p.Pro3fs)
NM_002617.4(PEX10):c.912+1G>A rs1553231739
NM_002617.4(PEX10):c.912+1G>C rs1553231739
NM_002617.4(PEX10):c.916del (p.Glu306fs) rs2100419143
NM_002618.4(PEX13):c.787+1G>A rs2104803776
NM_002618.4(PEX13):c.92+1G>A
NM_002618.4(PEX13):c.93-1G>A
NM_002857.4(PEX19):c.180+1G>T rs1320716582
NM_002857.4(PEX19):c.181-2A>G rs2101804905
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)
NM_002857.4(PEX19):c.346+2T>C rs1657837348
NM_002857.4(PEX19):c.594+1G>C
NM_002857.4(PEX19):c.70+2T>G
NM_003630.3(PEX3):c.144C>A (p.Tyr48Ter)
NM_003630.3(PEX3):c.331+1G>C
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg) rs1562654527
NM_003630.3(PEX3):c.685G>T (p.Gly229Ter)
NM_003630.3(PEX3):c.844A>C (p.Thr282Pro) rs1473197986
NM_003846.3(PEX11B):c.124C>T (p.Gln42Ter)
NM_003846.3(PEX11B):c.275del (p.Asn92fs)
NM_004565.3(PEX14):c.204_298+125delinsTATTCCTT
NM_004565.3(PEX14):c.298+1G>C
NM_004565.3(PEX14):c.299-5_306del
NM_004565.3(PEX14):c.36+1G>T rs1641167602
NM_004813.4(PEX16):c.112+2T>G rs1590798080
NM_004813.4(PEX16):c.149-2A>G
NM_004813.4(PEX16):c.226-2A>C
NM_004813.4(PEX16):c.359+1G>A
NM_004813.4(PEX16):c.460+5G>A rs2134695257
NM_004813.4(PEX16):c.679C>G (p.Arg227Gly)
NM_004813.4(PEX16):c.694+1G>A rs2134692847
NM_004813.4(PEX16):c.887+2T>G rs2134691627
NM_004813.4(PEX16):c.888-1G>C
NM_004813.4(PEX16):c.888-2A>C rs2086772786
NM_004813.4(PEX16):c.995_997del (p.Phe332del) rs797045062

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