ClinVar Miner

List of variants reported as pathogenic for Peroxisome biogenesis disorder

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ClinVar version:
Total variants: 216
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228 0.00008
NM_002617.4(PEX10):c.704dup (p.Leu236fs) rs61750435 0.00008
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 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_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103 0.00003
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter) rs781475201 0.00003
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_002617.4(PEX10):c.730C>T (p.Arg244Ter) rs61752092 0.00003
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) rs61750417 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.600+1G>A rs267608183 0.00002
NM_000286.3(PEX12):c.744dup (p.Thr249fs) rs61752108 0.00001
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs) rs1408438094 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1313dup (p.Glu439fs) rs770055192 0.00001
NM_000287.4(PEX6):c.1798C>T (p.Gln600Ter) rs1769875600 0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000287.4(PEX6):c.2205del (p.Arg736fs) rs1197432552 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val) rs764227040 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000287.4(PEX6):c.510_511del (p.Asp172fs) rs61753211 0.00001
NM_000287.4(PEX6):c.517del (p.Ser173fs) rs61753212 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000466.3(PEX1):c.2071+1G>T rs267608177 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_000466.3(PEX1):c.2926+2T>C rs267608180 0.00001
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter) rs61752136 0.00001
NM_003630.3(PEX3):c.17G>A (p.Trp6Ter) rs1243154971 0.00001
NM_004813.4(PEX16):c.451C>T (p.Gln151Ter) rs1218545995 0.00001
NM_004813.4(PEX16):c.526C>T (p.Arg176Ter) rs61752117 0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) rs769772100 0.00001
NC_000006.11:g.(?_41126341)_(43752536_?)del
NC_000006.11:g.(?_42941721)_(42942796_?)del
NC_000006.11:g.(?_42942593)_(42946888_?)del
NC_000006.12:g.(?_42968280)_(42979253_?)del
NC_000006.12:g.(?_42974865)_(42975048_?)del
NC_000006.12:g.42965156_42965157insTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAGCTTGTCAAATCTTT
NC_000007.13:g.(92123944_92126026)_(92126092_92129017)del
NC_000008.10:g.(?_77892493)_(77912525_?)del
NC_000011.9:g.(?_45827353)_(46401497_?)del
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000287.4(PEX6):c.1027del (p.Arg343fs) rs1388178333
NM_000287.4(PEX6):c.1036C>T (p.Gln346Ter)
NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter) rs267608212
NM_000287.4(PEX6):c.1072del (p.Cys358fs)
NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter) rs1478799269
NM_000287.4(PEX6):c.1098_1099del (p.Glu366fs) rs1189098622
NM_000287.4(PEX6):c.10_216delinsCCACCCGGGGGCCCGTGGCCGGCGGCGGAGCTGGGCCTGGTGCTGGCCCTGAGGC (p.Ala4fs) rs2150240574
NM_000287.4(PEX6):c.1109_1112del (p.Gly370fs) rs2150234919
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
NM_000287.4(PEX6):c.1138dup (p.Glu380fs) rs2114248372
NM_000287.4(PEX6):c.1149_1150insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGGAAATGTTTTTT (p.Lys384delinsPhePhePhePhePhePheXaaXaaXaaXaaProProProSerArgThrGlyArgLeuAlaArgArgGlyGlyGlyTer)
NM_000287.4(PEX6):c.1156A>T (p.Lys386Ter) rs2114248288
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter) rs886044436
NM_000287.4(PEX6):c.1216dup (p.His406fs) rs2114248084
NM_000287.4(PEX6):c.1263G>A (p.Trp421Ter)
NM_000287.4(PEX6):c.1276G>T (p.Glu426Ter)
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1326dup (p.Ser443fs) rs2114247458
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000287.4(PEX6):c.1352del (p.Pro451fs)
NM_000287.4(PEX6):c.1357del (p.Leu453fs) rs2114247385
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.1404del (p.Arg469fs) rs267608218
NM_000287.4(PEX6):c.1406_1474del (p.Arg469_Leu491del)
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala) rs1561823098
NM_000287.4(PEX6):c.1415del (p.Pro472fs) rs267608219
NM_000287.4(PEX6):c.1415dup (p.Gly473fs)
NM_000287.4(PEX6):c.1504G>T (p.Glu502Ter)
NM_000287.4(PEX6):c.1522del (p.Glu508fs) rs754684285
NM_000287.4(PEX6):c.1573dup (p.Val525fs) rs2114244815
NM_000287.4(PEX6):c.1586_1587dup (p.Ala530fs)
NM_000287.4(PEX6):c.1681del (p.Leu561fs) rs1200299979
NM_000287.4(PEX6):c.1688+1G>A rs112298166
NM_000287.4(PEX6):c.1688+1G>T rs112298166
NM_000287.4(PEX6):c.1690_1693dup (p.Pro565fs) rs2114242907
NM_000287.4(PEX6):c.1691del (p.Cys564fs) rs2114242920
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.4(PEX6):c.1750C>T (p.Gln584Ter)
NM_000287.4(PEX6):c.1774G>T (p.Glu592Ter) rs375288192
NM_000287.4(PEX6):c.1782_1807dup (p.Ser603fs) rs2114242538
NM_000287.4(PEX6):c.1790C>G (p.Ser597Ter)
NM_000287.4(PEX6):c.1805del (p.Leu602fs) rs2114242547
NM_000287.4(PEX6):c.1891del (p.Val631fs) rs2114241031
NM_000287.4(PEX6):c.1908T>A (p.Tyr636Ter)
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter) rs1769818844
NM_000287.4(PEX6):c.1A>G (p.Met1Val)
NM_000287.4(PEX6):c.1A>T (p.Met1Leu)
NM_000287.4(PEX6):c.2010del (p.Gly671fs)
NM_000287.4(PEX6):c.2063del (p.Thr688fs)
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter) rs201306028
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.2120dup (p.Gly709fs)
NM_000287.4(PEX6):c.212del (p.Pro71fs) rs2150240582
NM_000287.4(PEX6):c.217C>T (p.Gln73Ter)
NM_000287.4(PEX6):c.2244del (p.Gly749fs)
NM_000287.4(PEX6):c.2276_2277del (p.Thr759fs)
NM_000287.4(PEX6):c.2315del (p.Glu772fs)
NM_000287.4(PEX6):c.2364_2365del rs755716911
NM_000287.4(PEX6):c.237_238del (p.Leu80fs) rs1178535907
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) rs62653602
NM_000287.4(PEX6):c.2410G>T (p.Glu804Ter)
NM_000287.4(PEX6):c.2434del (p.Arg812fs)
NM_000287.4(PEX6):c.2439del (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2470del (p.Arg824fs) rs2114238399
NM_000287.4(PEX6):c.2518C>T (p.Gln840Ter)
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.4(PEX6):c.2667-2A>C rs267608249
NM_000287.4(PEX6):c.2722C>T (p.Gln908Ter) rs2114236416
NM_000287.4(PEX6):c.2754_2758del (p.Cys918_Asp920delinsTer) rs2114236281
NM_000287.4(PEX6):c.286_289del (p.Ala96fs)
NM_000287.4(PEX6):c.2T>C (p.Met1Thr) rs1554128597
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.315G>A (p.Trp105Ter)
NM_000287.4(PEX6):c.385_388del (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.392_395del (p.Leu131fs)
NM_000287.4(PEX6):c.402del (p.Gly135fs)
NM_000287.4(PEX6):c.427_485del (p.Pro143fs)
NM_000287.4(PEX6):c.503_504del (p.Pro168fs)
NM_000287.4(PEX6):c.506_507del (p.Glu169fs) rs1554128461
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.514del (p.Asp172fs)
NM_000287.4(PEX6):c.514dup (p.Asp172fs) rs2150239907
NM_000287.4(PEX6):c.530del (p.Pro177fs)
NM_000287.4(PEX6):c.531del (p.Pro179fs) rs2150239870
NM_000287.4(PEX6):c.573_882+237delinsTGGTCA
NM_000287.4(PEX6):c.630del (p.Cys211fs) rs2150239689
NM_000287.4(PEX6):c.655C>T (p.Gln219Ter)
NM_000287.4(PEX6):c.655del (p.Gln219fs)
NM_000287.4(PEX6):c.656del (p.Gln219fs) rs267608202
NM_000287.4(PEX6):c.668dup (p.Trp224fs)
NM_000287.4(PEX6):c.671G>A (p.Trp224Ter)
NM_000287.4(PEX6):c.689_690del (p.Glu230fs) rs398123305
NM_000287.4(PEX6):c.689_690dup (p.Ser232fs) rs398123305
NM_000287.4(PEX6):c.692C>G (p.Ser231Ter)
NM_000287.4(PEX6):c.698del (p.Asn233fs)
NM_000287.4(PEX6):c.706C>T (p.Gln236Ter) rs779526175
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter) rs61753215
NM_000287.4(PEX6):c.738_741del (p.Glu246fs) rs2150239487
NM_000287.4(PEX6):c.740dup (p.Arg248fs)
NM_000287.4(PEX6):c.746G>A (p.Trp249Ter)
NM_000287.4(PEX6):c.747G>A (p.Trp249Ter) rs1770400284
NM_000287.4(PEX6):c.755_756del (p.Leu251_Ser252insTer)
NM_000287.4(PEX6):c.802_815del (p.Asp268fs) rs63749004
NM_000287.4(PEX6):c.814_817dup (p.Val273fs) rs367543282
NM_000287.4(PEX6):c.831_834del (p.Leu277fs)
NM_000287.4(PEX6):c.856del (p.Leu286fs) rs267608205
NM_000287.4(PEX6):c.87G>A (p.Trp29Ter)
NM_000287.4(PEX6):c.882+1G>A rs267608207
NM_000287.4(PEX6):c.896del (p.Gly299fs)
NM_000287.4(PEX6):c.909del (p.Glu304fs)
NM_000287.4(PEX6):c.914_923del (p.Asp305fs) rs1364614470
NM_000287.4(PEX6):c.916_919del (p.Lys306fs) rs2150236148
NM_000287.4(PEX6):c.959_960del (p.Glu320fs)
NM_000287.4(PEX6):c.993C>A (p.Tyr331Ter)
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
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.77_79delinsTT (p.Asn26fs)
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.130-2A>G rs1585260993
NM_000466.3(PEX1):c.1716_1717del (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.3(PEX1):c.2034_2035del (p.His678fs) rs61750412
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs) rs61750430
NM_000466.3(PEX1):c.3287C>G (p.Ser1096Ter)
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.788_789del (p.Thr263fs) rs61750404
NM_001127649.3(PEX26):c.230+1G>T rs267608190
NM_001127649.3(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_002617.4(PEX10):c.2T>C (p.Met1Thr) rs724160002
NM_002617.4(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002618.4(PEX13):c.391C>T (p.Gln131Ter)
NM_002618.4(PEX13):c.573_582del (p.Arg193fs)
NM_004813.4(PEX16):c.115C>T (p.Arg39Ter) rs2134699162
NM_004813.4(PEX16):c.238C>T (p.Gln80Ter)
NM_004813.4(PEX16):c.311G>A (p.Trp104Ter)
NM_004813.4(PEX16):c.312G>A (p.Trp104Ter)
NM_004813.4(PEX16):c.446dup (p.Ala150fs) rs2134695309
NM_004813.4(PEX16):c.512C>A (p.Ser171Ter)
NM_004813.4(PEX16):c.535C>T (p.Gln179Ter)
NM_004813.4(PEX16):c.58del (p.Ala20fs)
NM_004813.4(PEX16):c.595C>T (p.Gln199Ter)
NM_004813.4(PEX16):c.65_71del (p.Thr22fs) rs2134699707
NM_004813.4(PEX16):c.714G>A (p.Trp238Ter)
NM_004813.4(PEX16):c.718C>T (p.Gln240Ter) rs2134692559
NM_004813.4(PEX16):c.729G>A (p.Trp243Ter)
NM_004813.4(PEX16):c.737G>A (p.Trp246Ter) rs2086807269
NM_004813.4(PEX16):c.817G>T (p.Glu273Ter)
NM_004813.4(PEX16):c.860G>A (p.Arg287His)

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