ClinVar Miner

List of variants reported as uncertain significance for Zellweger syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 453
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HGVS dbSNP
NM_000286.3(PEX12):c.*335T>C rs886052830
NM_000286.3(PEX12):c.*380G>C rs762716335
NM_000286.3(PEX12):c.*433T>C rs886052829
NM_000286.3(PEX12):c.*474A>G rs886052828
NM_000286.3(PEX12):c.*519A>G rs886052827
NM_000286.3(PEX12):c.*532A>G rs886052826
NM_000286.3(PEX12):c.*569T>A rs541598688
NM_000286.3(PEX12):c.*767_*771CTAAT[1] rs886052825
NM_000286.3(PEX12):c.*778G>A rs886052824
NM_000286.3(PEX12):c.*922T>C rs886052823
NM_000286.3(PEX12):c.-108A>G rs886052831
NM_000286.3(PEX12):c.-138T>C rs543169335
NM_000286.3(PEX12):c.-145C>T rs886052832
NM_000286.3(PEX12):c.-147C>T rs559905700
NM_000286.3(PEX12):c.-340G>T rs886052833
NM_000286.3(PEX12):c.-405C>G rs886052834
NM_000286.3(PEX12):c.-427G>A rs531286605
NM_000286.3(PEX12):c.-434A>C rs771210303
NM_000286.3(PEX12):c.-495C>T rs577172680
NM_000286.3(PEX12):c.1002G>A (p.Arg334=) rs200283718
NM_000286.3(PEX12):c.349A>G (p.Ile117Val) rs767207001
NM_000286.3(PEX12):c.353T>C (p.Met118Thr) rs879075660
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp) rs193253559
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458
NM_000286.3(PEX12):c.84T>C (p.Ser28=) rs200641558
NM_000287.3(PEX6):c.-39G>A rs76974379
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.*368G>A rs866465109
NM_000287.4(PEX6):c.*407T>G rs886061409
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915
NM_000287.4(PEX6):c.1110A>G (p.Gly370=) rs886061411
NM_000287.4(PEX6):c.1130+2T>C rs1416001981
NM_000287.4(PEX6):c.1234-10C>T rs370661410
NM_000287.4(PEX6):c.1234-11A>G rs201879957
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala) rs182308788
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230
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.2936C>T (p.Ala979Val) rs115180949
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp) rs772383329
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu) rs200026148
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.853C>G (p.Pro285Ala) rs61753220
NM_000287.4(PEX6):c.870G>C (p.Glu290Asp) rs150358700
NM_000287.4(PEX6):c.939T>C (p.Pro313=) rs151234121
NM_000318.2(PEX2):c.-273G>A rs367767138
NM_000318.2(PEX2):c.-278C>G rs886063142
NM_000318.2(PEX2):c.-335C>T rs886063143
NM_000318.2(PEX2):c.-367A>G rs886063144
NM_000318.2(PEX2):c.-369C>T rs886063145
NM_000318.3(PEX2):c.*103C>G rs529963492
NM_000318.3(PEX2):c.*1047T>A rs886063133
NM_000318.3(PEX2):c.*1085T>A rs886063132
NM_000318.3(PEX2):c.*1242A>G rs73691481
NM_000318.3(PEX2):c.*1370A>G rs886063131
NM_000318.3(PEX2):c.*1448C>T rs184740361
NM_000318.3(PEX2):c.*1466_*1468ATT[1] rs552746754
NM_000318.3(PEX2):c.*1561G>A rs886063130
NM_000318.3(PEX2):c.*1602A>G rs557330187
NM_000318.3(PEX2):c.*1716A>G rs192555214
NM_000318.3(PEX2):c.*1755A>G rs886063129
NM_000318.3(PEX2):c.*1765G>A rs60300869
NM_000318.3(PEX2):c.*1811C>T rs886063128
NM_000318.3(PEX2):c.*1842G>C rs184573256
NM_000318.3(PEX2):c.*1854A>C rs886063127
NM_000318.3(PEX2):c.*2007A>T rs558850392
NM_000318.3(PEX2):c.*2057G>A rs568202276
NM_000318.3(PEX2):c.*2294C>G rs763651452
NM_000318.3(PEX2):c.*2306A>G rs59296540
NM_000318.3(PEX2):c.*233C>G rs190595998
NM_000318.3(PEX2):c.*2430T>C rs886063126
NM_000318.3(PEX2):c.*2466A>G rs886063125
NM_000318.3(PEX2):c.*2518C>T rs886063124
NM_000318.3(PEX2):c.*277_*279del rs886063138
NM_000318.3(PEX2):c.*2787G>A rs886063123
NM_000318.3(PEX2):c.*2894T>C rs569387185
NM_000318.3(PEX2):c.*2920_*2922del rs746335104
NM_000318.3(PEX2):c.*2973T>C rs751974703
NM_000318.3(PEX2):c.*324G>T rs886063137
NM_000318.3(PEX2):c.*37C>T rs886063140
NM_000318.3(PEX2):c.*40G>A rs148915806
NM_000318.3(PEX2):c.*458G>A rs143201132
NM_000318.3(PEX2):c.*489C>T rs886063136
NM_000318.3(PEX2):c.*595C>T rs754113775
NM_000318.3(PEX2):c.*627G>T rs145960090
NM_000318.3(PEX2):c.*819A>C rs886063135
NM_000318.3(PEX2):c.*913C>T rs886063134
NM_000318.3(PEX2):c.*91A>G rs886063139
NM_000318.3(PEX2):c.-13del rs146402705
NM_000318.3(PEX2):c.-178C>T rs886063141
NM_000318.3(PEX2):c.-183G>T rs568404564
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu) rs549242503
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000318.3(PEX2):c.769A>G (p.Ile257Val) rs199874465
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302
NM_000319.4(PEX5):c.*1080T>C rs755972180
NM_000319.4(PEX5):c.*1089T>C rs886049834
NM_000319.4(PEX5):c.*1134T>A rs769928491
NM_000319.4(PEX5):c.*1134T>C rs769928491
NM_000319.4(PEX5):c.*1139T>C rs886049836
NM_000319.4(PEX5):c.*1251G>A rs538222740
NM_000319.4(PEX5):c.*1259G>C rs148385560
NM_000319.4(PEX5):c.*132C>G rs753013794
NM_000319.4(PEX5):c.*179A>G rs192786621
NM_000319.4(PEX5):c.*1C>T rs886049827
NM_000319.4(PEX5):c.*322C>T rs764082627
NM_000319.4(PEX5):c.*403C>T rs886049828
NM_000319.4(PEX5):c.*446_*452dup rs771366153
NM_000319.4(PEX5):c.*452G>C rs185474091
NM_000319.4(PEX5):c.*462G>C rs75145323
NM_000319.4(PEX5):c.*495G>A rs776371289
NM_000319.4(PEX5):c.*627C>T rs146897980
NM_000319.4(PEX5):c.*677G>T rs886049830
NM_000319.4(PEX5):c.*722G>A rs886049831
NM_000319.4(PEX5):c.*81A>C rs183460108
NM_000319.4(PEX5):c.*891A>G rs371691416
NM_000319.4(PEX5):c.*960C>G rs78134587
NM_000319.4(PEX5):c.*991_*992dup rs886049833
NM_000319.4(PEX5):c.1497C>T (p.Ala499=) rs150761638
NM_000319.4(PEX5):c.1498G>A (p.Val500Met) rs138028549
NM_000319.4(PEX5):c.1535A>G (p.Asn512Ser) rs139364109
NM_000319.4(PEX5):c.1563C>T (p.Gly521=) rs144401814
NM_000319.4(PEX5):c.1608G>A (p.Ala536=) rs115338343
NM_000319.4(PEX5):c.1623C>G (p.Leu541=) rs753512677
NM_000319.4(PEX5):c.1629C>G (p.Leu543=) rs200215904
NM_000319.4(PEX5):c.1694+13A>G rs116873137
NM_000319.4(PEX5):c.1713T>C (p.Phe571=) rs753159772
NM_000319.4(PEX5):c.1790G>A (p.Ser597Asn) rs146567534
NM_000319.4(PEX5):c.1826G>C (p.Ser609Thr) rs751637149
NM_000319.4(PEX5):c.1849G>A (p.Ala617Thr) rs143600154
NM_000319.4(PEX5):c.1851G>A (p.Ala617=) rs371233272
NM_000319.4(PEX5):c.1878G>A (p.Met626Ile) rs145886418
NM_000319.4(PEX5):c.371C>G (p.Ala124Gly) rs143307183
NM_000319.4(PEX5):c.498A>G (p.Gln166=) rs756714515
NM_000319.4(PEX5):c.533G>A (p.Gly178Glu) rs749729761
NM_000319.4(PEX5):c.551+15C>T rs886049825
NM_000319.4(PEX5):c.552-7G>A rs189631769
NM_000319.4(PEX5):c.604G>C (p.Val202Leu) rs149102738
NM_000319.4(PEX5):c.643-5C>T rs886049826
NM_000319.4(PEX5):c.754-4G>A rs111286659
NM_000319.4(PEX5):c.885T>C (p.Ala295=) rs376649488
NM_000319.4(PEX5):c.942+3G>A rs373763823
NM_000319.4(PEX5):c.943-15G>A rs201341037
NM_000466.2(PEX1):c.2584-11_2584-10delTT rs5885806
NM_000466.3(PEX1):c.*133G>C rs886062500
NM_000466.3(PEX1):c.*241T>C rs886062499
NM_000466.3(PEX1):c.-19A>G rs368326503
NM_000466.3(PEX1):c.-43T>G rs572810743
NM_000466.3(PEX1):c.-45T>C rs886062509
NM_000466.3(PEX1):c.-74A>G rs886062510
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.130-9T>C rs377337949
NM_000466.3(PEX1):c.1360-4G>T rs199716270
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229
NM_000466.3(PEX1):c.1671-7T>C rs74519968
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser) rs200991412
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs) rs1562857333
NM_000466.3(PEX1):c.2072C>T (p.Ala691Val) rs150351763
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile) rs750911436
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-9del rs886062504
NM_000466.3(PEX1):c.2718+3A>G rs370536529
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385
NM_000466.3(PEX1):c.2927-12T>A rs375062546
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000466.3(PEX1):c.3161C>T (p.Ala1054Val) rs886062503
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=) rs776231556
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val) rs781277635
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610
NM_000466.3(PEX1):c.3546A>G (p.Gln1182=) rs886062502
NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile) rs749324355
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=) rs886062501
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly) rs886062507
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506
NM_001131023.1(PEX5):c.-17+22_-17+40delinsCC rs775869915
NM_001131025.1(PEX5):c.-145G>A rs542096066
NM_001131025.1(PEX5):c.-210G>T rs117442311
NM_001131025.1(PEX5):c.-243G>A rs754651589
NM_001131025.1(PEX5):c.-298T>C rs779168691
NM_001131025.1(PEX5):c.-332G>A rs146875386
NM_001131025.1(PEX5):c.-443T>C rs796452917
NM_001131025.1(PEX5):c.-462_-461insCCG rs886049824
NM_001131025.1(PEX5):c.-515G>T rs886049823
NM_001131025.1(PEX5):c.-519T>C rs770339670
NM_001131025.1(PEX5):c.-521C>G rs886049822
NM_001131025.1(PEX5):c.-535C>T rs886049821
NM_001199319.1(PEX26):c.-167C>T rs886057244
NM_002618.4(PEX13):c.*1283C>G rs886056201
NM_002618.4(PEX13):c.*1377G>A rs536283006
NM_002618.4(PEX13):c.*1533G>C rs886056202
NM_002618.4(PEX13):c.*1564C>G rs886056203
NM_002618.4(PEX13):c.*1566A>T rs886056204
NM_002618.4(PEX13):c.*1724A>T rs137932203
NM_002618.4(PEX13):c.*1875_*1876del rs886056205
NM_002618.4(PEX13):c.*1961T>C rs771587917
NM_002618.4(PEX13):c.*1998T>C rs559684247
NM_002618.4(PEX13):c.*2159T>C rs886056206
NM_002618.4(PEX13):c.*2168A>T rs886056207
NM_002618.4(PEX13):c.*216T>C rs146980377
NM_002618.4(PEX13):c.*2296G>A rs886056208
NM_002618.4(PEX13):c.*233G>T rs886056198
NM_002618.4(PEX13):c.*2356T>C rs139999174
NM_002618.4(PEX13):c.*263A>T rs558525565
NM_002618.4(PEX13):c.*2642T>C rs886056209
NM_002618.4(PEX13):c.*2989_*2990del rs886056210
NM_002618.4(PEX13):c.*298G>C rs886056199
NM_002618.4(PEX13):c.*3012A>G rs144691386
NM_002618.4(PEX13):c.*3038A>T rs886056211
NM_002618.4(PEX13):c.*3044del rs886056212
NM_002618.4(PEX13):c.*383A>T rs149099359
NM_002618.4(PEX13):c.*442dup rs201619544
NM_002618.4(PEX13):c.*676A>G rs886056200
NM_002618.4(PEX13):c.*803A>G rs561112537
NM_002618.4(PEX13):c.*813G>C rs781689721
NM_002618.4(PEX13):c.*90A>G rs535967834
NM_002618.4(PEX13):c.*944C>T rs148184159
NM_002618.4(PEX13):c.*956G>T rs141215166
NM_002618.4(PEX13):c.-12G>A rs886056195
NM_002618.4(PEX13):c.-6G>C rs147461642
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038
NM_002618.4(PEX13):c.1158G>A (p.Lys386=) rs371789976
NM_002618.4(PEX13):c.193A>G (p.Ser65Gly) rs886056196
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser) rs367843599
NM_002618.4(PEX13):c.269A>G (p.Tyr90Cys) rs200928725
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu) rs564528921
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro) rs202077756
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348
NM_002618.4(PEX13):c.417A>G (p.Ala139=) rs886056197
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr) rs145568490
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) rs201699810
NM_002857.3(PEX19):c.*1103C>T rs561417695
NM_002857.3(PEX19):c.*1163T>C rs575199724
NM_002857.3(PEX19):c.*1330G>A rs886045442
NM_002857.3(PEX19):c.*1335G>T rs748536788
NM_002857.3(PEX19):c.*1450T>A rs886045441
NM_002857.3(PEX19):c.*1592G>A rs779471097
NM_002857.3(PEX19):c.*169C>T rs192931972
NM_002857.3(PEX19):c.*172G>C rs886045449
NM_002857.3(PEX19):c.*1745T>C rs186821837
NM_002857.3(PEX19):c.*1761C>A rs761868324
NM_002857.3(PEX19):c.*1790A>G rs886045440
NM_002857.3(PEX19):c.*1852C>G rs370387085
NM_002857.3(PEX19):c.*1980T>C rs372976790
NM_002857.3(PEX19):c.*2068T>C rs536872409
NM_002857.3(PEX19):c.*2155C>T rs886045439
NM_002857.3(PEX19):c.*2417_*2418CT[2] rs143491060
NM_002857.3(PEX19):c.*2536A>G rs141829599
NM_002857.3(PEX19):c.*2555T>G rs148123121
NM_002857.3(PEX19):c.*2717A>G rs574056299
NM_002857.3(PEX19):c.*361G>A rs886045448
NM_002857.3(PEX19):c.*427A>G rs886045447
NM_002857.3(PEX19):c.*469C>T rs886045446
NM_002857.3(PEX19):c.*662C>T rs773981843
NM_002857.3(PEX19):c.*77delA rs771535781
NM_002857.3(PEX19):c.*854G>A rs747191827
NM_002857.3(PEX19):c.*896A>G rs886045445
NM_002857.3(PEX19):c.*898A>G rs8989
NM_002857.3(PEX19):c.*934A>G rs886045444
NM_002857.3(PEX19):c.*998G>A rs886045443
NM_002857.3(PEX19):c.-4C>T rs201541204
NM_002857.3(PEX19):c.149C>T (p.Pro50Leu) rs11550117
NM_002857.3(PEX19):c.181-4G>T rs747572423
NM_002857.3(PEX19):c.181-5C>T rs199818690
NM_002857.3(PEX19):c.347-7C>T rs753523567
NM_002857.3(PEX19):c.402T>C (p.Ser134=) rs139828188
NM_002857.3(PEX19):c.432+2T>C rs757078881
NM_002857.3(PEX19):c.433-11G>T rs41265791
NM_002857.3(PEX19):c.459G>A (p.Leu153=) rs78340311
NM_002857.3(PEX19):c.498T>G (p.Asp166Glu) rs142780305
NM_002857.3(PEX19):c.630A>C (p.Leu210=) rs202174805
NM_002857.3(PEX19):c.771+3A>G rs141133579
NM_003630.2(PEX3):c.-247T>C rs138955442
NM_003630.3(PEX3):c.*1074A>G rs553070296
NM_003630.3(PEX3):c.*129C>T rs41285017
NM_003630.3(PEX3):c.*1305C>T rs886061137
NM_003630.3(PEX3):c.*1332A>G rs886061138
NM_003630.3(PEX3):c.*1335A>G rs9403495
NM_003630.3(PEX3):c.*220G>A rs117247312
NM_003630.3(PEX3):c.*307_*308TA[7] rs1326299129
NM_003630.3(PEX3):c.*321_*322del rs771525459
NM_003630.3(PEX3):c.*391G>A rs140007169
NM_003630.3(PEX3):c.*424T>C rs189379544
NM_003630.3(PEX3):c.*573A>G rs886061135
NM_003630.3(PEX3):c.*677C>T rs886061136
NM_003630.3(PEX3):c.*793T>C rs535466526
NM_003630.3(PEX3):c.*895G>A rs3804545
NM_003630.3(PEX3):c.*958T>C rs41285019
NM_003630.3(PEX3):c.-150_-149CT[3] rs886061131
NM_003630.3(PEX3):c.-175G>C rs545482337
NM_003630.3(PEX3):c.-175dup rs886061130
NM_003630.3(PEX3):c.-214G>C rs886061129
NM_003630.3(PEX3):c.-4A>G rs116692495
NM_003630.3(PEX3):c.165A>G (p.Gln55=) rs41285015
NM_003630.3(PEX3):c.249A>G (p.Gln83=) rs139760270
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg) rs199781957
NM_003630.3(PEX3):c.51C>T (p.Ile17=) rs367803197
NM_003630.3(PEX3):c.887C>T (p.Ala296Val) rs886061132
NM_003630.3(PEX3):c.96T>C (p.Tyr32=) rs201718910
NM_004565.3(PEX14):c.*174C>T rs886045018
NM_004565.3(PEX14):c.*400G>T rs886045019
NM_004565.3(PEX14):c.*515C>T rs886045020
NM_004565.3(PEX14):c.*564C>T rs561807671
NM_004565.3(PEX14):c.*576A>G rs530124005
NM_004565.3(PEX14):c.*755del rs548721184
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482
NM_004565.3(PEX14):c.274C>G (p.Pro92Ala) rs199525137
NM_004565.3(PEX14):c.297C>T (p.Tyr99=) rs371473184
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) rs12061667
NM_004565.3(PEX14):c.36+8G>A rs200154696
NM_004565.3(PEX14):c.381C>T (p.Tyr127=) rs372630614
NM_004565.3(PEX14):c.400C>G (p.Leu134Val) rs140476337
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869
NM_004565.3(PEX14):c.795A>G (p.Ser265=) rs41274484
NM_004565.3(PEX14):c.825G>A (p.Ser275=) rs143412169
NM_004565.3(PEX14):c.855C>G (p.Gly285=) rs201107513
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser) rs886045017
NM_004565.3(PEX14):c.925G>T (p.Val309Leu) rs764272265
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu) rs79954820
NM_004813.2(PEX16):c.-164G>T rs773746164
NM_004813.2(PEX16):c.-184A>G rs745333570
NM_004813.2(PEX16):c.-265C>T rs886048330
NM_004813.2(PEX16):c.-290C>G rs886048331
NM_004813.2(PEX16):c.-305C>T rs886048332
NM_004813.2(PEX16):c.-67C>A rs886048329
NM_007033.5(RER1):c.*1788C>T rs556816263
NM_007033.5(RER1):c.*1807G>A rs886046136
NM_007033.5(RER1):c.*2222C>T rs868844283
NM_007033.5(RER1):c.*2232C>T rs886046144
NM_017929.6(PEX26):c.*112C>T rs761715161
NM_017929.6(PEX26):c.*1136G>A rs886057251
NM_017929.6(PEX26):c.*113G>A rs199653646
NM_017929.6(PEX26):c.*114C>T rs45500699
NM_017929.6(PEX26):c.*1152G>C rs886057252
NM_017929.6(PEX26):c.*1171G>A rs184116244
NM_017929.6(PEX26):c.*1194G>A rs118188952
NM_017929.6(PEX26):c.*133C>T rs200243782
NM_017929.6(PEX26):c.*1623_*1626GTTT[7] rs375436648
NM_017929.6(PEX26):c.*1631G>T rs886057254
NM_017929.6(PEX26):c.*1684T>C rs886057255
NM_017929.6(PEX26):c.*1720G>A rs749348676
NM_017929.6(PEX26):c.*1740C>G rs139987168
NM_017929.6(PEX26):c.*2070del rs886057256
NM_017929.6(PEX26):c.*2155A>G rs773334209
NM_017929.6(PEX26):c.*2162G>A rs45489191
NM_017929.6(PEX26):c.*2285C>T rs886057257
NM_017929.6(PEX26):c.*2311G>T rs74714634
NM_017929.6(PEX26):c.*2386C>G rs148534099
NM_017929.6(PEX26):c.*2449C>T rs140919342
NM_017929.6(PEX26):c.*2452G>C rs886057258
NM_017929.6(PEX26):c.*2479G>A rs537299090
NM_017929.6(PEX26):c.*2647G>A rs886057259
NM_017929.6(PEX26):c.*2724G>C rs58564536
NM_017929.6(PEX26):c.*2768C>T rs886057260
NM_017929.6(PEX26):c.*2799dup rs751296123
NM_017929.6(PEX26):c.*2807_*2808del rs754613851
NM_017929.6(PEX26):c.*280G>A rs188897908
NM_017929.6(PEX26):c.*533A>C rs886057247
NM_017929.6(PEX26):c.*568G>A rs886057248
NM_017929.6(PEX26):c.*609_*610GA[3] rs886057249
NM_017929.6(PEX26):c.*812C>T rs886057250
NM_017929.6(PEX26):c.*828C>T rs551641353
NM_017929.6(PEX26):c.*912C>T rs79240512
NM_017929.6(PEX26):c.*925A>G rs115277831
NM_017929.6(PEX26):c.*954T>C rs188986907
NM_017929.6(PEX26):c.*977C>T rs181706274
NM_017929.6(PEX26):c.-127G>A rs752393777
NM_017929.6(PEX26):c.-133C>T rs561094254
NM_017929.6(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_017929.6(PEX26):c.153C>A (p.Phe51Leu) rs777633990
NM_017929.6(PEX26):c.198C>T (p.Ala66=) rs374290931
NM_017929.6(PEX26):c.200A>G (p.Asn67Ser) rs201884779
NM_017929.6(PEX26):c.207C>T (p.Ala69=) rs375516973
NM_017929.6(PEX26):c.208G>T (p.Val70Leu) rs766581207
NM_017929.6(PEX26):c.230+8C>T rs886057245
NM_017929.6(PEX26):c.625G>T (p.Glu209Ter) rs886057246
NM_017929.6(PEX26):c.643G>A (p.Glu215Lys) rs138232280
NM_017929.6(PEX26):c.728C>T (p.Ala243Val) rs149153003
NM_017929.6(PEX26):c.815-13C>T rs139370593
NM_017929.6(PEX26):c.889C>T (p.Arg297Cys) rs780701336
NM_057174.2(PEX16):c.*112C>T rs886048326
NM_057174.2(PEX16):c.*144G>C rs886048325
NM_057174.2(PEX16):c.*159G>A rs879320611
NM_057174.2(PEX16):c.*176C>T rs559300237
NM_057174.2(PEX16):c.*211G>A rs143868125
NM_057174.2(PEX16):c.*326G>A rs886048324
NM_057174.2(PEX16):c.*392G>C rs770223341
NM_057174.2(PEX16):c.204G>T (p.Glu68Asp) rs149348130
NM_057174.2(PEX16):c.348C>T (p.Ile116=) rs886048328
NM_057174.2(PEX16):c.360-7G>A rs202161790
NM_057174.2(PEX16):c.540C>G (p.Asn180Lys) rs886048327
NM_057174.2(PEX16):c.609C>T (p.His203=) rs537046144
NM_057174.2(PEX16):c.628C>T (p.Pro210Ser) rs754114296
NM_057174.2(PEX16):c.694+11C>T rs763840804
NM_057174.2(PEX16):c.699C>T (p.Leu233=) rs781411790
NM_057174.2(PEX16):c.726G>A (p.Ser242=) rs200414298
NM_057174.2(PEX16):c.918G>C (p.Leu306=) rs753109224
NM_057174.2(PEX16):c.946G>A (p.Val316Ile) rs775371916
NM_057174.2(PEX16):c.953-12T>C rs16938413
NM_057174.2(PEX16):c.953-86T>C rs144897515
NM_057174.2(PEX16):c.983C>T (p.Pro328Leu) rs201513691
NM_144709.4(PUS10):c.-16+316G>A rs571713221
NM_153818.1(PEX10):c.*10C>T rs367845280
NM_153818.1(PEX10):c.*16G>A rs886046146
NM_153818.1(PEX10):c.*304C>T rs758081067
NM_153818.1(PEX10):c.*310G>A rs539850807
NM_153818.1(PEX10):c.*352G>A rs115735911
NM_153818.1(PEX10):c.*499G>A rs886046143
NM_153818.1(PEX10):c.*594C>T rs760677467
NM_153818.1(PEX10):c.*627C>T rs886046142
NM_153818.1(PEX10):c.*688G>T rs886046141
NM_153818.1(PEX10):c.*732G>A rs886046140
NM_153818.1(PEX10):c.*744dup rs886046139
NM_153818.1(PEX10):c.*782C>A rs886046138
NM_153818.1(PEX10):c.*798C>T rs886046137
NM_153818.1(PEX10):c.*838C>T rs886046135
NM_153818.1(PEX10):c.*91A>G rs886046145
NM_153818.1(PEX10):c.-52_-51delTG rs570192538
NM_153818.1(PEX10):c.1037G>A (p.Arg346His) rs140890506
NM_153818.1(PEX10):c.194-5C>T rs375032738
NM_153818.1(PEX10):c.275G>A (p.Arg92His) rs375649043
NM_153818.1(PEX10):c.280G>A (p.Val94Met) rs142626035
NM_153818.1(PEX10):c.316C>T (p.Leu106=) rs140340426
NM_153818.1(PEX10):c.318G>A (p.Leu106=) rs146452560
NM_153818.1(PEX10):c.418G>C (p.Gly140Arg) rs76530653
NM_153818.1(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_153818.1(PEX10):c.555C>T (p.His185=) rs75377471
NM_153818.1(PEX10):c.601-15G>A rs369211467
NM_153818.1(PEX10):c.671G>A (p.Arg224His) rs199934621
NM_153818.1(PEX10):c.6C>G (p.Ala2=) rs112471479
NM_153818.1(PEX10):c.745G>C (p.Val249Leu) rs139345520
NM_153818.1(PEX10):c.771C>T (p.Tyr257=) rs761005209
NM_153818.1(PEX10):c.820G>A (p.Gly274Ser) rs761942658
NM_153818.1(PEX10):c.836+8C>T rs370594705
NM_153818.1(PEX10):c.903G>A (p.Arg301=) rs35082957
NM_153818.1(PEX10):c.956C>T (p.Ala319Val) rs78620392

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