ClinVar Miner

List of variants in gene OTC reported by GenMed Metabolism Lab

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 317
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HGVS dbSNP
NM_000531.5(OTC):c.298+1_298+5delGTAAG rs111060773
NM_000531.5(OTC):c.664-1delG rs67839039
NM_000531.5(OTC):c.717+7_717+22delTCTTTACATGTAAAGC rs111060774
NM_000531.5(OTC):c.718-4_729delCTAGAATGGTACCAAG rs72558434
NM_000531.5(OTC):c.77+3_77+6delAAGT rs72558496
NM_000531.6(OTC):c.1005+1G>T rs72558483
NM_000531.6(OTC):c.1005+2T>C rs72558484
NM_000531.6(OTC):c.1005G>A (p.Met335Ile) rs281865553
NM_000531.6(OTC):c.1006-1G>A rs67916658
NM_000531.6(OTC):c.1006-3C>G rs72558485
NM_000531.6(OTC):c.1006G>T (p.Ala336Ser) rs72558486
NM_000531.6(OTC):c.1009G>C (p.Val337Leu) rs72558487
NM_000531.6(OTC):c.1015G>C (p.Val339Leu) rs72558488
NM_000531.6(OTC):c.1018T>C (p.Ser340Pro) rs72558489
NM_000531.6(OTC):c.1022T>C (p.Leu341Pro) rs72558490
NM_000531.6(OTC):c.1028C>A (p.Thr343Lys) rs72558491
NM_000531.6(OTC):c.1033T>C (p.Tyr345His) rs66469337
NM_000531.6(OTC):c.1033T>G (p.Tyr345Asp) rs66469337
NM_000531.6(OTC):c.1034A>G (p.Tyr345Cys) rs72558492
NM_000531.6(OTC):c.1039C>A (p.Pro347Thr) rs72558493
NM_000531.6(OTC):c.1042C>T (p.Gln348Ter) rs72558494
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495
NM_000531.6(OTC):c.106C>T (p.Gln36Ter) rs72554305
NM_000531.6(OTC):c.115G>T (p.Gly39Cys) rs72554306
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.122A>G (p.Asp41Gly) rs74518351
NM_000531.6(OTC):c.127C>T (p.Leu43Phe) rs72554309
NM_000531.6(OTC):c.131C>T (p.Thr44Ile) rs72554310
NM_000531.6(OTC):c.133C>G (p.Leu45Val) rs72554311
NM_000531.6(OTC):c.134T>C (p.Leu45Pro) rs72554312
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655
NM_000531.6(OTC):c.140A>T (p.Asn47Ile) rs67939655
NM_000531.6(OTC):c.140_141insG (p.Asn47fs) rs72554314
NM_000531.6(OTC):c.140del (p.Asn47fs) rs72554313
NM_000531.6(OTC):c.143T>C (p.Phe48Ser) rs72554315
NM_000531.6(OTC):c.145A>C (p.Thr49Pro) rs72554316
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158
NM_000531.6(OTC):c.148G>T (p.Gly50Ter) rs67486158
NM_000531.6(OTC):c.154G>A (p.Glu52Lys) rs66521141
NM_000531.6(OTC):c.154G>T (p.Glu52Ter) rs66521141
NM_000531.6(OTC):c.155A>G (p.Glu52Gly) rs72554317
NM_000531.6(OTC):c.156A>T (p.Glu52Asp) rs72554318
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.158T>G (p.Ile53Ser) rs66677059
NM_000531.6(OTC):c.163T>G (p.Tyr55Asp) rs72554319
NM_000531.6(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000531.6(OTC):c.170T>A (p.Leu57Gln) rs72554321
NM_000531.6(OTC):c.174G>A (p.Trp58Ter) rs72554322
NM_000531.6(OTC):c.179C>T (p.Ser60Leu) rs72554323
NM_000531.6(OTC):c.188T>C (p.Leu63Pro) rs72554324
NM_000531.6(OTC):c.1A>G (p.Met1Val) rs67752076
NM_000531.6(OTC):c.1A>T (p.Met1Leu) rs67752076
NM_000531.6(OTC):c.200T>G (p.Ile67Arg) rs72554325
NM_000531.6(OTC):c.205C>T (p.Gln69Ter) rs72554326
NM_000531.6(OTC):c.216+1G>A rs66693137
NM_000531.6(OTC):c.216+1G>T rs66693137
NM_000531.6(OTC):c.217-1G>A rs72554327
NM_000531.6(OTC):c.227T>C (p.Leu76Ser) rs72554328
NM_000531.6(OTC):c.231G>T (p.Leu77Phe) rs72554329
NM_000531.6(OTC):c.232C>T (p.Gln78Ter) rs72554330
NM_000531.6(OTC):c.236G>A (p.Gly79Glu) rs72554331
NM_000531.6(OTC):c.238A>G (p.Lys80Glu) rs72554332
NM_000531.6(OTC):c.240G>T (p.Lys80Asn) rs72554333
NM_000531.6(OTC):c.243_245del (p.Leu82del) rs72554334
NM_000531.6(OTC):c.245T>G (p.Leu82Ter) rs72554335
NM_000531.6(OTC):c.247G>C (p.Gly83Arg) rs72554336
NM_000531.6(OTC):c.248G>A (p.Gly83Asp) rs72554337
NM_000531.6(OTC):c.259G>A (p.Glu87Lys) rs72554338
NM_000531.6(OTC):c.264A>T (p.Lys88Asn) rs72554339
NM_000531.6(OTC):c.268A>G (p.Ser90Gly) rs72554340
NM_000531.6(OTC):c.269G>A (p.Ser90Asn) rs72554341
NM_000531.6(OTC):c.270T>G (p.Ser90Arg) rs72554342
NM_000531.6(OTC):c.271del (p.Thr91fs) rs72554343
NM_000531.6(OTC):c.274C>G (p.Arg92Gly) rs67418243
NM_000531.6(OTC):c.274C>T (p.Arg92Ter) rs67418243
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.275G>C (p.Arg92Pro) rs66550389
NM_000531.6(OTC):c.275G>T (p.Arg92Leu) rs66550389
NM_000531.6(OTC):c.277A>G (p.Thr93Ala) rs72554344
NM_000531.6(OTC):c.281G>C (p.Arg94Thr) rs72554345
NM_000531.6(OTC):c.284T>C (p.Leu95Ser) rs72554346
NM_000531.6(OTC):c.292G>A (p.Glu98Lys) rs72554347
NM_000531.6(OTC):c.298+1G>A rs68058881
NM_000531.6(OTC):c.298+1G>T rs68058881
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.299G>A (p.Gly100Asp) rs72554349
NM_000531.6(OTC):c.29_32del (p.Asn10fs) rs72552297
NM_000531.6(OTC):c.2T>C (p.Met1Thr) rs72552295
NM_000531.6(OTC):c.305C>A (p.Ala102Glu) rs72554350
NM_000531.6(OTC):c.314G>T (p.Gly105Val) rs72554351
NM_000531.6(OTC):c.316G>A (p.Gly106Arg) rs72554352
NM_000531.6(OTC):c.317G>A (p.Gly106Glu) rs67651903
NM_000531.6(OTC):c.317G>T (p.Gly106Val) rs67651903
NM_000531.6(OTC):c.330del (p.Thr112fs) rs72554353
NM_000531.6(OTC):c.350A>G (p.His117Arg) rs66539573
NM_000531.6(OTC):c.350A>T (p.His117Leu) rs66539573
NM_000531.6(OTC):c.357_358TG[1] (p.Val120fs) rs72554354
NM_000531.6(OTC):c.364_365insTT (p.Glu122fs) rs72554355
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000531.6(OTC):c.376del (p.Asp126fs) rs72554357
NM_000531.6(OTC):c.377A>G (p.Asp126Gly) rs72554358
NM_000531.6(OTC):c.386+1G>A rs66737144
NM_000531.6(OTC):c.386+1G>T rs66737144
NM_000531.6(OTC):c.386+2T>C rs72554359
NM_000531.6(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000531.6(OTC):c.386G>C (p.Arg129Pro) rs66656800
NM_000531.6(OTC):c.386G>T (p.Arg129Leu) rs66656800
NM_000531.6(OTC):c.387-2A>C rs66556380
NM_000531.6(OTC):c.387-2A>G rs66556380
NM_000531.6(OTC):c.387-2A>T rs66556380
NM_000531.6(OTC):c.390_392dup (p.Leu131dup) rs72556251
NM_000531.6(OTC):c.392T>C (p.Leu131Ser) rs72556252
NM_000531.6(OTC):c.394T>C (p.Ser132Pro) rs72556253
NM_000531.6(OTC):c.395C>T (p.Ser132Phe) rs72556254
NM_000531.6(OTC):c.3G>A (p.Met1Ile) rs72552296
NM_000531.6(OTC):c.403del (p.Ala135fs) rs72556255
NM_000531.6(OTC):c.404C>A (p.Ala135Glu) rs72556256
NM_000531.6(OTC):c.407A>T (p.Asp136Val) rs72556257
NM_000531.6(OTC):c.409G>A (p.Ala137Thr) rs72556258
NM_000531.6(OTC):c.416T>C (p.Leu139Ser) rs72556259
NM_000531.6(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.6(OTC):c.421C>G (p.Arg141Gly) rs67960011
NM_000531.6(OTC):c.421C>T (p.Arg141Ter) rs67960011
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.422G>C (p.Arg141Pro) rs68026851
NM_000531.6(OTC):c.425T>A (p.Val142Glu) rs72556261
NM_000531.6(OTC):c.42del (p.Phe14fs) rs72552298
NM_000531.6(OTC):c.430A>T (p.Lys144Ter) rs72556262
NM_000531.6(OTC):c.437C>G (p.Ser146Ter) rs72556263
NM_000531.6(OTC):c.443T>C (p.Leu148Ser) rs67016166
NM_000531.6(OTC):c.443T>G (p.Leu148Trp) rs67016166
NM_000531.6(OTC):c.444G>C (p.Leu148Phe) rs66741318
NM_000531.6(OTC):c.444G>T (p.Leu148Phe) rs66741318
NM_000531.6(OTC):c.451del (p.Leu151fs) rs72556264
NM_000531.6(OTC):c.452T>G (p.Leu151Arg) rs72556265
NM_000531.6(OTC):c.455C>T (p.Ala152Val) rs72556266
NM_000531.6(OTC):c.460G>T (p.Glu154Ter) rs72556267
NM_000531.6(OTC):c.463G>C (p.Ala155Pro) rs67890094
NM_000531.6(OTC):c.463G>T (p.Ala155Ser) rs67890094
NM_000531.6(OTC):c.464C>A (p.Ala155Glu) rs72556268
NM_000531.6(OTC):c.476T>C (p.Ile159Thr) rs72556269
NM_000531.6(OTC):c.479T>A (p.Ile160Asn) rs67954347
NM_000531.6(OTC):c.479T>C (p.Ile160Thr) rs67954347
NM_000531.6(OTC):c.479T>G (p.Ile160Ser) rs67954347
NM_000531.6(OTC):c.481A>G (p.Asn161Asp) rs72556270
NM_000531.6(OTC):c.482A>G (p.Asn161Ser) rs72556271
NM_000531.6(OTC):c.484G>A (p.Gly162Arg) rs66626662
NM_000531.6(OTC):c.484G>C (p.Gly162Arg) rs66626662
NM_000531.6(OTC):c.485G>A (p.Gly162Glu) rs72556272
NM_000531.6(OTC):c.490T>C (p.Ser164Pro) rs72556273
NM_000531.6(OTC):c.491C>G (p.Ser164Ter) rs72556274
NM_000531.6(OTC):c.493G>T (p.Asp165Tyr) rs72556275
NM_000531.6(OTC):c.501C>A (p.Tyr167Ter) rs66564822
NM_000531.6(OTC):c.501C>G (p.Tyr167Ter) rs66564822
NM_000531.6(OTC):c.503A>C (p.His168Pro) rs66867430
NM_000531.6(OTC):c.503A>G (p.His168Arg) rs66867430
NM_000531.6(OTC):c.504T>A (p.His168Gln) rs72556276
NM_000531.6(OTC):c.505C>G (p.Pro169Ala) rs72556277
NM_000531.6(OTC):c.506C>T (p.Pro169Leu) rs72556278
NM_000531.6(OTC):c.514A>T (p.Ile172Phe) rs72556279
NM_000531.6(OTC):c.516C>G (p.Ile172Met) rs72556280
NM_000531.6(OTC):c.520G>C (p.Ala174Pro) rs72556281
NM_000531.6(OTC):c.524A>G (p.Asp175Gly) rs68033093
NM_000531.6(OTC):c.524A>T (p.Asp175Val) rs68033093
NM_000531.6(OTC):c.526T>C (p.Tyr176His) rs72556282
NM_000531.6(OTC):c.527A>G (p.Tyr176Cys) rs72556283
NM_000531.6(OTC):c.532_537del (p.Thr178_Leu179del) rs72556285
NM_000531.6(OTC):c.533C>T (p.Thr178Met) rs72556284
NM_000531.6(OTC):c.536T>C (p.Leu179Pro) rs72556286
NM_000531.6(OTC):c.53del (p.His18fs) rs72552299
NM_000531.6(OTC):c.540+1G>C rs72556288
NM_000531.6(OTC):c.540+2T>A rs67367843
NM_000531.6(OTC):c.540+2T>C rs67367843
NM_000531.6(OTC):c.540G>C (p.Gln180His) rs72556287
NM_000531.6(OTC):c.541-2A>G rs72556289
NM_000531.6(OTC):c.542A>G (p.Glu181Gly) rs72556290
NM_000531.6(OTC):c.545A>T (p.His182Leu) rs72556291
NM_000531.6(OTC):c.547T>G (p.Tyr183Asp) rs72556292
NM_000531.6(OTC):c.548A>G (p.Tyr183Cys) rs72556293
NM_000531.6(OTC):c.562G>C (p.Gly188Arg) rs72556294
NM_000531.6(OTC):c.563G>T (p.Gly188Val) rs72556295
NM_000531.6(OTC):c.571C>T (p.Leu191Phe) rs72556296
NM_000531.6(OTC):c.572T>G (p.Leu191Arg) rs72556297
NM_000531.6(OTC):c.576C>G (p.Ser192Arg) rs72556298
NM_000531.6(OTC):c.577T>C (p.Trp193Arg) rs67284661
NM_000531.6(OTC):c.577T>G (p.Trp193Gly) rs67284661
NM_000531.6(OTC):c.578G>A (p.Trp193Ter) rs72556299
NM_000531.6(OTC):c.583G>A (p.Gly195Arg) rs67294955
NM_000531.6(OTC):c.586G>A (p.Asp196Asn) rs66642398
NM_000531.6(OTC):c.586G>T (p.Asp196Tyr) rs66642398
NM_000531.6(OTC):c.586del (p.Asp196fs) rs67294956
NM_000531.6(OTC):c.587A>T (p.Asp196Val) rs72556300
NM_000531.6(OTC):c.589G>A (p.Gly197Arg) rs72556301
NM_000531.6(OTC):c.590G>A (p.Gly197Glu) rs72556302
NM_000531.6(OTC):c.593A>T (p.Asn198Ile) rs72558403
NM_000531.6(OTC):c.594C>A (p.Asn198Lys) rs72558404
NM_000531.6(OTC):c.595A>G (p.Asn199Asp) rs72558405
NM_000531.6(OTC):c.596A>G (p.Asn199Ser) rs72558406
NM_000531.6(OTC):c.602T>C (p.Leu201Pro) rs72558407
NM_000531.6(OTC):c.604C>T (p.His202Tyr) rs72558408
NM_000531.6(OTC):c.605A>C (p.His202Pro) rs72558409
NM_000531.6(OTC):c.608C>G (p.Ser203Cys) rs72558410
NM_000531.6(OTC):c.613A>G (p.Met205Val) rs72558411
NM_000531.6(OTC):c.617T>G (p.Met206Arg) rs72558412
NM_000531.6(OTC):c.618G>C (p.Met206Ile) rs72558413
NM_000531.6(OTC):c.620G>A (p.Ser207Asn) rs72558414
NM_000531.6(OTC):c.621C>A (p.Ser207Arg) rs72558415
NM_000531.6(OTC):c.622G>A (p.Ala208Thr) rs72558416
NM_000531.6(OTC):c.626C>T (p.Ala209Val) rs72558417
NM_000531.6(OTC):c.628A>C (p.Lys210Gln) rs72558418
NM_000531.6(OTC):c.640C>T (p.His214Tyr) rs72558420
NM_000531.6(OTC):c.643C>T (p.Leu215Phe) rs72558421
NM_000531.6(OTC):c.645dup (p.Gln216fs) rs72558422
NM_000531.6(OTC):c.646C>G (p.Gln216Glu) rs72558423
NM_000531.6(OTC):c.650C>A (p.Ala217Glu) rs72558424
NM_000531.6(OTC):c.658C>G (p.Pro220Ala) rs72558425
NM_000531.6(OTC):c.659C>T (p.Pro220Leu) rs72558426
NM_000531.6(OTC):c.663+1G>A rs68170503
NM_000531.6(OTC):c.663+1G>T rs68170503
NM_000531.6(OTC):c.663+2T>C rs72558427
NM_000531.6(OTC):c.663G>A (p.Lys221=) rs281865552
NM_000531.6(OTC):c.663G>C (p.Lys221Asn) rs281865552
NM_000531.6(OTC):c.664-1G>A rs67839036
NM_000531.6(OTC):c.673C>A (p.Pro225Thr) rs72558428
NM_000531.6(OTC):c.674C>G (p.Pro225Arg) rs67120076
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.67C>T (p.Arg23Ter) rs72552300
NM_000531.6(OTC):c.698C>T (p.Ala233Val) rs72558429
NM_000531.6(OTC):c.700G>T (p.Glu234Ter) rs72558430
NM_000531.6(OTC):c.716A>G (p.Glu239Gly) rs67283833
NM_000531.6(OTC):c.716A>T (p.Glu239Val) rs67283833
NM_000531.6(OTC):c.717+1G>A rs66500027
NM_000531.6(OTC):c.717+1G>T rs66500027
NM_000531.6(OTC):c.717+2T>C rs72558431
NM_000531.6(OTC):c.717+3A>G rs72558432
NM_000531.6(OTC):c.717G>A (p.Glu239=) rs66851495
NM_000531.6(OTC):c.717G>C (p.Glu239Asp) rs66851495
NM_000531.6(OTC):c.718-2A>G rs72558433
NM_000531.6(OTC):c.725C>T (p.Thr242Ile) rs72558435
NM_000531.6(OTC):c.731T>A (p.Leu244Gln) rs72558436
NM_000531.6(OTC):c.731_739del (p.Leu244_Thr247delinsPro) rs72558438
NM_000531.6(OTC):c.740C>A (p.Thr247Lys) rs72558437
NM_000531.6(OTC):c.757G>A (p.Ala253Thr) rs67330615
NM_000531.6(OTC):c.757G>C (p.Ala253Pro) rs67330615
NM_000531.6(OTC):c.759del (p.Ala254fs) rs72558439
NM_000531.6(OTC):c.764A>C (p.His255Pro) rs72558440
NM_000531.6(OTC):c.77+1G>A rs67077695
NM_000531.6(OTC):c.77+1G>T rs67077695
NM_000531.6(OTC):c.77+4A>C rs72552301
NM_000531.6(OTC):c.77+5G>A rs72552302
NM_000531.6(OTC):c.779T>C (p.Leu260Ser) rs72558441
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.77G>C (p.Arg26Pro) rs68031618
NM_000531.6(OTC):c.78-1G>C rs281865554
NM_000531.6(OTC):c.78-3C>G rs72554303
NM_000531.6(OTC):c.785C>A (p.Thr262Lys) rs67333670
NM_000531.6(OTC):c.785C>T (p.Thr262Ile) rs67333670
NM_000531.6(OTC):c.787G>A (p.Asp263Asn) rs72558442
NM_000531.6(OTC):c.788A>G (p.Asp263Gly) rs72558443
NM_000531.6(OTC):c.790A>G (p.Thr264Ala) rs72558444
NM_000531.6(OTC):c.791C>A (p.Thr264Asn) rs67156896
NM_000531.6(OTC):c.791C>T (p.Thr264Ile) rs67156896
NM_000531.6(OTC):c.793T>C (p.Trp265Arg) rs72558445
NM_000531.6(OTC):c.794G>T (p.Trp265Leu) rs72558446
NM_000531.6(OTC):c.795G>A (p.Trp265Ter) rs72558447
NM_000531.6(OTC):c.799A>C (p.Ser267Arg) rs72558448
NM_000531.6(OTC):c.803T>C (p.Met268Thr) rs72558449
NM_000531.6(OTC):c.806G>A (p.Gly269Glu) rs72558450
NM_000531.6(OTC):c.808C>T (p.Gln270Ter) rs72558451
NM_000531.6(OTC):c.809A>C (p.Gln270Pro) rs1800328
NM_000531.6(OTC):c.814_816GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.818del (p.Glu273fs) rs72558453
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.830G>A (p.Arg277Gln) rs66724222
NM_000531.6(OTC):c.830G>T (p.Arg277Leu) rs66724222
NM_000531.6(OTC):c.835C>T (p.Gln279Ter) rs72558455
NM_000531.6(OTC):c.867+1G>A rs66512766
NM_000531.6(OTC):c.867+1G>T rs66512766
NM_000531.6(OTC):c.867G>T (p.Lys289Asn) rs72558456
NM_000531.6(OTC):c.876del (p.Val293fs) rs72558457
NM_000531.6(OTC):c.882del (p.Ala295fs) rs72558458
NM_000531.6(OTC):c.890_893del (p.Asp297fs) rs72558459
NM_000531.6(OTC):c.892_893del (p.Trp298fs) rs72558460
NM_000531.6(OTC):c.893G>C (p.Trp298Ser) rs72558461
NM_000531.6(OTC):c.903A>T (p.Leu301Phe) rs72558462
NM_000531.6(OTC):c.904C>T (p.His302Tyr) rs72558463
NM_000531.6(OTC):c.905A>G (p.His302Arg) rs67993095
NM_000531.6(OTC):c.905A>T (p.His302Leu) rs67993095
NM_000531.6(OTC):c.906C>G (p.His302Gln) rs67870244
NM_000531.6(OTC):c.906del (p.Cys303fs) rs67870245
NM_000531.6(OTC):c.907T>C (p.Cys303Arg) rs67468335
NM_000531.6(OTC):c.907T>G (p.Cys303Gly) rs67468335
NM_000531.6(OTC):c.908G>A (p.Cys303Tyr) rs72558464
NM_000531.6(OTC):c.912G>T (p.Leu304Phe) rs72558465
NM_000531.6(OTC):c.914C>A (p.Pro305His) rs67501347
NM_000531.6(OTC):c.914C>G (p.Pro305Arg) rs67501347
NM_000531.6(OTC):c.928G>T (p.Glu310Ter) rs72558466
NM_000531.6(OTC):c.929A>G (p.Glu310Gly) rs72558467
NM_000531.6(OTC):c.931G>A (p.Val311Met) rs72558468
NM_000531.6(OTC):c.941_943del (p.Glu314del) rs72558469
NM_000531.6(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_000531.6(OTC):c.944T>A (p.Val315Asp) rs67414444
NM_000531.6(OTC):c.944T>G (p.Val315Gly) rs67414444
NM_000531.6(OTC):c.947T>C (p.Phe316Ser) rs72558471
NM_000531.6(OTC):c.94C>T (p.Gln32Ter) rs72554304
NM_000531.6(OTC):c.953C>T (p.Ser318Phe) rs72558472
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473
NM_000531.6(OTC):c.959G>T (p.Arg320Leu) rs72558474
NM_000531.6(OTC):c.962C>A (p.Ser321Ter) rs72558475
NM_000531.6(OTC):c.976G>A (p.Glu326Lys) rs72558476
NM_000531.6(OTC):c.982G>T (p.Glu328Ter) rs72558477
NM_000531.6(OTC):c.988A>G (p.Arg330Gly) rs72558478
NM_000531.6(OTC):c.991A>T (p.Lys331Ter) rs72558479
NM_000531.6(OTC):c.994T>A (p.Trp332Arg) rs72558480
NM_000531.6(OTC):c.995G>A (p.Trp332Ter) rs72558481
NM_000531.6(OTC):c.996G>A (p.Trp332Ter) rs72558482

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