ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by OMIM

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 214
Download table as spreadsheet
HGVS dbSNP
ABCD4, 1456G-T
ACSF3, LYS462THR AND GLY465_GLY470 DEL
AMN, IVS3, A-G, -2
BTD, 15-BP DEL/11-BP INS
HLCS, 1-BP DEL, 780G
HMGCL, 930-BP DEL, EX3-6DEL
LMBRD1, 1-BP DEL, 1056G
MMAA, 8-BP INS, NT260
MUT, 1808G-A
MUT, 2-BP DEL, 769CA
MUT, IVS11, C-A, -891
NC_012920.1:m.3243A>G rs199474657
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.1006-2A>C rs145229472
NM_000019.4(ACAT1):c.1032_1034AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) rs387906283
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr) rs120074140
NM_000019.4(ACAT1):c.1163+2T>C rs1280110907
NM_000019.4(ACAT1):c.149del (p.Thr50fs) rs779565865
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) rs120074145
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) rs120074142
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144
NM_000019.4(ACAT1):c.826+1G>T rs727503796
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147
NM_000060.2(BTD):c.[1207T>G;1330G>C]
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000116.5(TAZ):c.110-2A>G
NM_000116.5(TAZ):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAZ):c.239-1G>A
NM_000116.5(TAZ):c.239-1G>C
NM_000116.5(TAZ):c.280C>A (p.Arg94Ser) rs104894942
NM_000116.5(TAZ):c.284+110G>A
NM_000116.5(TAZ):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAZ):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAZ):c.605_608del (p.Glu202fs)
NM_000116.5(TAZ):c.647-1G>C rs587776741
NM_000116.5(TAZ):c.718G>A (p.Gly240Arg) rs387907218
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997
NM_000191.3(HMGCL):c.202_203CT[2] (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996
NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys) rs121964998
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000255.3(MMUT):c.322C>T rs121918257
NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu) rs121918250
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.2107G>C (p.Gly703Arg) rs121918255
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) rs121918253
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser) rs121918258
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958
NM_000282.4(PCCA):c.862A>T (p.Arg288Ter) rs121964957
NM_000411.8(HLCS):c.1519+5G>A rs753887925
NM_000411.8(HLCS):c.1522C>T (p.Arg508Trp) rs119103229
NM_000411.8(HLCS):c.1648G>A (p.Val550Met) rs119103231
NM_000411.8(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
NM_000411.8(HLCS):c.1741G>A (p.Gly581Ser) rs119103230
NM_000411.8(HLCS):c.647T>G (p.Leu216Arg) rs28934602
NM_000411.8(HLCS):c.655dup (p.Ile219fs) rs773102942
NM_000411.8(HLCS):c.710T>C (p.Leu237Pro) rs119103227
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1538_1540dup (p.Arg514_Ile515insPro) rs202247821
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000532.5(PCCB):c.654+462A>G
NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp) rs1300848445
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met) rs1244226820
NM_001017989.3(OPA3):c.143-24276_143-24259del rs80356526
NM_001017989.3(OPA3):c.143-24456G>C rs80356523
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
NM_001258392.3(CLPB):c.1595del (p.Ile532fs) rs876657402
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val) rs748010262
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys) rs786205138
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val) rs759500860
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter) rs786205139
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1228G>A (p.Gly410Ser) rs387906409
NM_001609.3(ACADSB):c.303+3A>G rs1345480688
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.3(ACADSB):c.763C>T (p.Leu255Phe) rs137852649
NM_001698.2(AUH):c.263-2A>G rs730880311
NM_001698.2(AUH):c.559G>A (p.Gly187Ser) rs387906755
NM_001698.2(AUH):c.589C>T (p.Arg197Ter) rs121434636
NM_001698.2(AUH):c.650G>A (p.Gly217Asp) rs387906756
NM_001698.2(AUH):c.80del (p.Ser27fs) rs730880310
NM_001698.2(AUH):c.895-1G>A rs730880309
NM_001698.2(AUH):c.943-2A>G rs730880312
NM_001698.2(AUH):c.991A>T (p.Lys331Ter) rs387906757
NM_002225.3(IVD):c.157C>T (p.Arg53Cys) rs34695403
NM_002225.3(IVD):c.941C>T (p.Ala314Val) rs28940889
NM_002225.5(IVD):c.785-1G>A rs1555404784
NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs) rs387907315
NM_005050.4(ABCD4):c.542+1G>T rs769364566
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056
NM_005334.3(HCFC1):c.-970T>C rs398122908
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) rs397515487
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_013247.4(HTRA2):c.1211G>A (p.Arg404Gln) rs767006508
NM_013247.4(HTRA2):c.1316_1320del (p.Val439fs) rs1057519080
NM_013247.4(HTRA2):c.728_730delinsCAT (p.Leu243_Pro244delinsProSer) rs1057519082
NM_013247.4(HTRA2):c.906+1G>C rs1057519081
NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser) rs770114459
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) rs863225062
NM_014362.4(HIBCH):c.129dup (p.Gly44fs) rs767597690
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) rs757976755
NM_014362.4(HIBCH):c.220-9T>G rs786200864
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014362.4(HIBCH):c.79-3C>G rs778922921
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu) rs786204004
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419
NM_014384.2(ACAD8):c.455T>C (p.Met152Thr) rs121908418
NM_014384.2(ACAD8):c.867C>A (p.His289Gln) rs121908421
NM_014384.2(ACAD8):c.905G>A (p.Arg302Gln) rs121908422
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) rs121908420
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.2(MMACHC):c.482G>A rs121918243
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu) rs606231425
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.81G>A (p.Gln27=) rs1553162317
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363
NM_015702.3(MMADHC):c.696+3_696+6del rs397509364
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_018368.4(LMBRD1):c.404del (p.Thr135fs) rs1562112641
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) rs119103215
NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met) rs119103218
NM_020166.5(MCCC1):c.1594G>C (p.Asp532His) rs119103214
NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe) rs119103216
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224
NM_022132.5(MCCC2):c.1574+1G>A rs730880265
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) rs119103220
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) rs587776533
NM_022132.5(MCCC2):c.569A>G (p.His190Arg) rs119103225
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr) rs119103223
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538
NM_032861.3(SERAC1):c.1167_1170del (p.Gln390Profs) rs772296795
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_032861.4(SERAC1):c.1432_1434CTT[1] (p.Leu479del) rs1199625391
NM_032861.4(SERAC1):c.1626_1627CT[3] (p.Val544fs) rs767780913
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr) rs864309509
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu) rs864309511
NM_052845.4(MMAB):c.291-1G>A rs199971687
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.567_569CCG[3] (p.Arg191dup) rs864309512
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_052845.4(MMAB):c.573_577del (p.Ala192fs) rs1555274497
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708
NM_145261.4(DNAJC19):c.130-1G>C rs137854888
NM_145261.4(DNAJC19):c.300del (p.Ala101fs) rs587777224
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.620A>G (p.Tyr207Cys) rs104893849
NM_174917.5(ACSF3):c.1073C>T (p.Thr358Ile) rs387907120
NM_174917.5(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_174917.5(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_174917.5(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119
NM_174917.5(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118
NM_174917.5(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_174917.5(ACSF3):c.593T>G (p.Met198Arg) rs387907121
NM_174917.5(ACSF3):c.728C>T (p.Pro243Leu) rs140986055
NM_181697.3(PRDX1):c.515-1G>T rs751828470
NM_181697.3(PRDX1):c.515-2A>T rs1379672870
PCCA, 2-BP INS, 1824IVS, +3
PCCA, 4-BP DEL, 1824IVS, +3
PCCA, 9-BP DEL, 1771IVS, -2
PCCA, IVS14, A-G, -1416
PCCB, 12-BP INS, 14-BP DEL, NT1218
PCCB, 8-BP DEL, NT3
TAZ, 1-BP DEL
TAZ, 1-BP INS, NT868
TAZ, IVS1DS, G-C, +5

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.