ClinVar Miner

List of variants studied for classic organic aciduria by Myriad Genetics, Inc.

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00006
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_000532.5(PCCB):c.1398+1G>T rs794727092 0.00003
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly) rs200055428 0.00001
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter) rs750475071 0.00001
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907 0.00001
NM_000282.4(PCCA):c.231+1G>C rs972937270 0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412 0.00001
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_000191.3(HMGCL):c.275T>A (p.Leu92Ter) rs1638620864
NM_000191.3(HMGCL):c.276_278delinsT (p.Leu92fs)
NM_000191.3(HMGCL):c.308del (p.Tyr103fs)
NM_000191.3(HMGCL):c.331A>T (p.Lys111Ter) rs1638619737
NM_000191.3(HMGCL):c.594C>G (p.Tyr198Ter) rs139799938
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser) rs1445870588
NM_000191.3(HMGCL):c.714T>G (p.Tyr238Ter) rs1638446662
NM_000191.3(HMGCL):c.718C>T (p.Gln240Ter) rs1638446514
NM_000255.4(MMUT):c.1092C>A (p.Tyr364Ter)
NM_000255.4(MMUT):c.1171_1172delinsT (p.Asp391fs)
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter) rs1767555126
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter) rs1346775255
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter) rs1767479902
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter) rs1767478925
NM_000255.4(MMUT):c.1469del (p.Asn490fs)
NM_000255.4(MMUT):c.1525_1526del (p.Val510fs)
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter) rs748358807
NM_000255.4(MMUT):c.1590_1591del (p.Glu531fs)
NM_000255.4(MMUT):c.1722_1723del (p.Glu575fs)
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter) rs1767285621
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter) rs1767240499
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter) rs879253828
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter) rs1767739242
NM_000255.4(MMUT):c.511A>T (p.Lys171Ter)
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) rs200908035
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter) rs1767726007
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter) rs1319034847
NM_000255.4(MMUT):c.763A>T (p.Lys255Ter)
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter) rs1767683238
NM_000255.4(MMUT):c.839dup (p.Leu281fs) rs2127419415
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter) rs796052007
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter) rs1767617149
NM_000255.4(MMUT):c.975del (p.Arg326fs)
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter) rs1767615100
NM_000282.4(PCCA):c.101_102del (p.Leu34fs)
NM_000282.4(PCCA):c.1086_1087delinsTGTGTATAA (p.Glu362fs)
NM_000282.4(PCCA):c.1086del (p.Glu362fs)
NM_000282.4(PCCA):c.1086delinsCT (p.Glu362fs)
NM_000282.4(PCCA):c.1095del (p.Gly366fs)
NM_000282.4(PCCA):c.1750del (p.Glu584fs)
NM_000282.4(PCCA):c.1756_1757del (p.Asp586fs)
NM_000282.4(PCCA):c.1812_1815del (p.Val605fs)
NM_000282.4(PCCA):c.458_459insAAATT (p.Arg154fs)
NM_000282.4(PCCA):c.459del (p.Arg154fs)
NM_000282.4(PCCA):c.493G>T (p.Gly165Ter)
NM_000282.4(PCCA):c.622del (p.Ile208fs)
NM_000282.4(PCCA):c.676_677insT (p.Gly226fs)
NM_000282.4(PCCA):c.786del (p.Lys262fs)
NM_000282.4(PCCA):c.837del (p.His279fs)
NM_000282.4(PCCA):c.844_846delinsAC (p.Ala282fs)
NM_000282.4(PCCA):c.904G>T (p.Glu302Ter)
NM_000282.4(PCCA):c.971_974del (p.Ala324fs)
NM_000532.5(PCCB):c.1001_1002insACTACTTT (p.Asn335fs)
NM_000532.5(PCCB):c.1095C>A (p.Cys365Ter)
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1262_1263del (p.Glu421fs)
NM_000532.5(PCCB):c.1302_1303del (p.Tyr435fs)
NM_000532.5(PCCB):c.488del (p.Gly163fs)
NM_000532.5(PCCB):c.52del (p.Ala18fs)
NM_000532.5(PCCB):c.809del (p.Asn270fs)
NM_000532.5(PCCB):c.923T>A (p.Leu308Ter)
NM_000532.5(PCCB):c.934A>T (p.Lys312Ter)
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter) rs1481968221
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter) rs2066894484
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter) rs2066882139
NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter) rs2065045000
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter) rs148814769
NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter) rs2065038117
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter) rs973578825
NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter) rs2090069178
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter) rs1324486146
NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter) rs2089755918
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter) rs2066942076
NM_001352514.2(HLCS):c.616del (p.Glu206fs)
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs) rs776431253
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter) rs779907293
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter) rs760029192
NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_002225.5(IVD):c.263del (p.Gly88fs)
NM_002225.5(IVD):c.272del (p.Gly91fs)
NM_002225.5(IVD):c.433C>T (p.Gln145Ter)
NM_002225.5(IVD):c.439G>T (p.Glu147Ter)
NM_002225.5(IVD):c.442A>T (p.Lys148Ter)
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.546_547delinsT (p.Lys182fs)
NM_002225.5(IVD):c.634_635del (p.Asp212fs)
NM_002225.5(IVD):c.640_641del (p.Ala214fs)
NM_002225.5(IVD):c.693dup (p.Pro232fs)
NM_002225.5(IVD):c.715A>T (p.Lys239Ter)
NM_002225.5(IVD):c.813_814insAGACA (p.Gly272fs)
NM_002225.5(IVD):c.958C>T (p.Gln320Ter)
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_172250.3(MMAA):c.420_422delinsTGTGATT (p.Lys140fs)
NM_172250.3(MMAA):c.490G>T (p.Gly164Ter)
NM_172250.3(MMAA):c.493A>T (p.Lys165Ter)
NM_172250.3(MMAA):c.496del (p.Met166fs)
NM_172250.3(MMAA):c.523dup (p.Ser175fs)
NM_172250.3(MMAA):c.552T>A (p.Cys184Ter) rs1727814966
NM_172250.3(MMAA):c.601_602del (p.Ser201fs)
NM_172250.3(MMAA):c.636delinsAGG (p.Thr213fs)
NM_172250.3(MMAA):c.708T>A (p.Tyr236Ter)
NM_172250.3(MMAA):c.785T>A (p.Leu262Ter)

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