ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 105
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HGVS dbSNP
NM_000060.2(BTD):c.1052delC (p.Thr351Lysfs) rs397514398
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447
NM_000191.3(HMGCL):c.503_504TC[1] (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) rs770466993
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter) rs1346775255
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter) rs879253825
NM_000255.4(MMUT):c.1332+1del rs771542321
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) rs887126161
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) rs764173488
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156
NM_000255.4(MMUT):c.1560+1G>T rs200019422
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) rs1554161054
NM_000255.4(MMUT):c.1677-1G>A rs754369323
NM_000255.4(MMUT):c.1677-1G>C rs754369323
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) rs1238694184
NM_000255.4(MMUT):c.1957-2A>G rs1554158379
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer) rs1554158377
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) rs777758903
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936
NM_000255.4(MMUT):c.29dup (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) rs121918253
NM_000255.4(MMUT):c.360dup (p.Lys121Ter) rs1554160919
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg) rs778702777
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256
NM_000255.4(MMUT):c.671_678dup (p.Val227fs) rs758008398
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) rs200596762
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter) rs879253834
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) rs780283588
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) rs761477436
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) rs879253806
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.231+1G>C rs972937270
NM_000282.4(PCCA):c.600+1G>T rs879253802
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000411.8(HLCS):c.1522C>T (p.Arg508Trp) rs119103229
NM_000411.8(HLCS):c.1693C>T (p.Arg565Ter) rs772791252
NM_000411.8(HLCS):c.782del (p.Gly261fs) rs771944310
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457
NM_000532.5(PCCB):c.966+1G>T rs1385850128
NM_001017989.3(OPA3):c.143-24456G>C rs80356523
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter) rs760612966
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) rs398123138
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.406C>T (p.Gln136Ter) rs397514362
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_002225.3(IVD):c.941C>T (p.Ala314Val) rs28940889
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) rs528744719
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787
NM_052845.4(MMAB):c.197-1G>T rs763935916
NM_052845.4(MMAB):c.291-1G>A rs199971687
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.585-2A>C rs1555274254
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.551dup (p.Cys184fs) rs1553958159
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter) rs1553957883
NM_172250.3(MMAA):c.970-2A>T rs1553959113

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