ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Research and Development, ARUP Laboratories

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 194
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HGVS dbSNP
NM_000060.2(BTD):c.1052delC (p.Thr351Lysfs) rs397514398
NM_000060.2(BTD):c.933delT (p.Ser311Argfs) rs397514395
NM_000060.2(BTD):c.[1171C>T;1334G>T]
NM_000060.2(BTD):c.[1207T>G;1330G>C]
NM_000060.2(BTD):c.[133G>A;1271G>C]
NM_000060.2(BTD):c.[133G>A;865G>C]
NM_000060.2(BTD):c.[159C>A;160G>T]
NM_000060.2(BTD):c.[212T>C;236G>A]
NM_000060.2(BTD):c.[235C>T;1361A>C]
NM_000060.2(BTD):c.[235C>T;470G>A]
NM_000060.2(BTD):c.[283C>T;1330G>C]
NM_000060.2(BTD):c.[470G>A;1330G>C]
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000060.2(BTD):c.[641A>G;1330G>C]
NM_000060.2(BTD):c.[794A>T;933T>G]
NM_000060.2(BTD):c.[98_104delGCGGCTGinsTCC;212T>C]
NM_000060.3(BTD):c.310-15delT rs587783008
NM_000060.4(BTD):c.1049del (p.Ala350Glufs) rs397514397
NM_000060.4(BTD):c.1191_1192del (p.Glu397Aspfs) rs397514403
NM_000060.4(BTD):c.1239del (p.Tyr414Ilefs) rs397514407
NM_000060.4(BTD):c.1264dup (p.Leu422Profs) rs397514411
NM_000060.4(BTD):c.1384del (p.Arg462Glyfs) rs397514420
NM_000060.4(BTD):c.246_254del (p.Leu83_Leu85del) rs397514346
NM_000060.4(BTD):c.393del (p.Phe131Leufs) rs397514356
NM_000060.4(BTD):c.407dup (p.Val137Glyfs) rs397514439
NM_000060.4(BTD):c.490_491del (p.Arg164Glyfs) rs397514365
NM_000060.4(BTD):c.544del (p.Ser182Valfs) rs397514368
NM_000060.4(BTD):c.594_596del (p.Val199del) rs397514373
NM_000060.4(BTD):c.594del (p.Val199Cysfs) rs397514374
NM_001370658.1(BTD):c.100G>T (p.Glu34Ter) rs397514338
NM_001370658.1(BTD):c.1036T>C (p.Ser346Pro) rs397514399
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs) rs1004027979
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter) rs760612966
NM_001370658.1(BTD):c.1097G>A (p.Trp366Ter) rs397514401
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter) rs397514339
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro) rs397514406
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1189G>T (p.Val397Phe) rs397514409
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412
NM_001370658.1(BTD):c.1208G>C (p.Cys403Ser) rs397514413
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) rs397514335
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser) rs397514335
NM_001370658.1(BTD):c.1215T>G (p.Tyr405Ter) rs397514414
NM_001370658.1(BTD):c.1224C>A (p.Tyr408Ter) rs35145938
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val) rs1553654107
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170
NM_001370658.1(BTD):c.124G>T (p.Val42Leu) rs397507170
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys) rs397514415
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1273G>A (p.Gly425Arg) rs397514417
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp) rs397514419
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) rs1553654142
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1309G>A (p.Val437Met) rs146600671
NM_001370658.1(BTD):c.130G>A (p.Glu44Lys) rs397514340
NM_001370658.1(BTD):c.1312dup (p.Cys438fs) rs587783007
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr) rs397514421
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) rs397514436
NM_001370658.1(BTD):c.1334dup (p.Leu446fs) rs397514440
NM_001370658.1(BTD):c.134A>G (p.His45Arg) rs397514341
NM_001370658.1(BTD):c.134_137ATCC[4] (p.Leu49fs) rs1205964567
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1398del (p.Trp467fs) rs1559600895
NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg) rs397514422
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.1403G>A (p.Gly468Asp) rs397514424
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys) rs750598655
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_001370658.1(BTD):c.1433dup (p.Leu478fs) rs397514425
NM_001370658.1(BTD):c.1451T>A (p.Met484Lys) rs397514426
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg) rs1559601041
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427
NM_001370658.1(BTD):c.1497T>G (p.Tyr499Ter) rs1559601106
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu) rs397514428
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429
NM_001370658.1(BTD):c.1556dup (p.Leu519fs) rs397514430
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) rs397514431
NM_001370658.1(BTD):c.1567G>C (p.Asp523His) rs397514432
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343
NM_001370658.1(BTD):c.185C>A (p.Ala62Asp) rs397507171
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.197T>G (p.Met66Arg) rs587783002
NM_001370658.1(BTD):c.202C>T (p.Gln68Ter) rs151071780
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.223C>T (p.Gln75Ter) rs397514349
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr) rs397514350
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.250G>T (p.Asp84Tyr) rs397514351
NM_001370658.1(BTD):c.261T>G (p.Ile87Met) rs1024847163
NM_001370658.1(BTD):c.261_262TA[3] (p.Val89Ter) rs1559596792
NM_001370658.1(BTD):c.266T>G (p.Val89Gly) rs397507172
NM_001370658.1(BTD):c.266dup (p.Phe90fs) rs1559596828
NM_001370658.1(BTD):c.274G>A (p.Glu92Lys) rs397514352
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser) rs397514353
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.322T>G (p.Phe108Val) rs397514355
NM_001370658.1(BTD):c.346del (p.Gln116fs) rs1404904752
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.394A>C (p.Thr132Pro) rs374681173
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg) rs587783003
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter) rs397514362
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366
NM_001370658.1(BTD):c.458T>G (p.Leu153Arg) rs397514437
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369
NM_001370658.1(BTD):c.499C>T (p.Pro167Ser) rs397507173
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser) rs397514371
NM_001370658.1(BTD):c.527C>G (p.Thr176Arg) rs397514372
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636
NM_001370658.1(BTD):c.571del (p.Arg191fs) rs1559599230
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869
NM_001370658.1(BTD):c.586T>A (p.Tyr196Asn) rs1559599267
NM_001370658.1(BTD):c.592G>C (p.Glu198Gln) rs397514378
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp) rs397514379
NM_001370658.1(BTD):c.604G>C (p.Asp202His) rs200337373
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.623A>G (p.Asp208Gly) rs587783004
NM_001370658.1(BTD):c.633del (p.Phe212fs) rs1559599378
NM_001370658.1(BTD):c.635T>C (p.Phe212Ser)
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu) rs397514438
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384
NM_001370658.1(BTD):c.710T>A (p.Val237Asp) rs1190721481
NM_001370658.1(BTD):c.723C>G (p.Tyr241Ter)
NM_001370658.1(BTD):c.734A>T (p.His245Leu) rs397514385
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387
NM_001370658.1(BTD):c.76G>T (p.Glu26Ter) rs397514336
NM_001370658.1(BTD):c.772C>G (p.Leu258Val) rs397514388
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.776T>A (p.Leu259Ter)
NM_001370658.1(BTD):c.776T>G (p.Leu259Trp) rs397514390
NM_001370658.1(BTD):c.796A>G (p.Lys266Glu) rs1559599682
NM_001370658.1(BTD):c.805G>C (p.Ala269Pro) rs397514334
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001370658.1(BTD):c.827T>G (p.Val276Gly) rs397514391
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001370658.1(BTD):c.836C>T (p.Ala279Val) rs397514392
NM_001370658.1(BTD):c.838A>C (p.Asn280His) rs587783006
NM_001370658.1(BTD):c.869G>A (p.Gly290Glu) rs397514393
NM_001370658.1(BTD):c.872G>A (p.Ser291Asn) rs397514394
NM_001370658.1(BTD):c.873T>G (p.Ser291Arg) rs397514386
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser) rs397514396
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn) rs397514433

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