ClinVar Miner

List of variants reported as uncertain significance for 3-methylcrotonyl-CoA carboxylase 2 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 215
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.*1243G>C rs7731970 0.80030
NM_022132.5(MCCC2):c.-38G>A rs186132078 0.00403
NM_022132.5(MCCC2):c.*526C>T rs181669670 0.00339
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026 0.00266
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_022132.5(MCCC2):c.1217-7C>G rs148369119 0.00171
NM_022132.5(MCCC2):c.*191A>T rs142332769 0.00169
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_022132.5(MCCC2):c.450G>C (p.Val150=) rs151098534 0.00121
NM_022132.5(MCCC2):c.*819G>A rs565662004 0.00100
NM_022132.5(MCCC2):c.*552C>T rs544574975 0.00093
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_022132.5(MCCC2):c.*773C>T rs1013092369 0.00055
NM_022132.5(MCCC2):c.328G>A (p.Asp110Asn) rs145438308 0.00043
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926 0.00041
NM_022132.5(MCCC2):c.*548C>T rs933207621 0.00040
NM_022132.5(MCCC2):c.*725C>T rs370508668 0.00035
NM_022132.5(MCCC2):c.*1297G>A rs547084096 0.00033
NM_022132.5(MCCC2):c.738+9A>G rs776559643 0.00033
NM_022132.5(MCCC2):c.*565C>A rs565365607 0.00032
NM_022132.5(MCCC2):c.*714G>A rs562662053 0.00030
NM_022132.5(MCCC2):c.*368T>C rs769233664 0.00029
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315 0.00021
NM_022132.5(MCCC2):c.*260T>A rs886060739 0.00019
NM_022132.5(MCCC2):c.701G>A (p.Arg234His) rs202100813 0.00015
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val) rs141676987 0.00015
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270 0.00014
NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys) rs144578800 0.00012
NM_022132.5(MCCC2):c.*941A>G rs537387461 0.00011
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr) rs371374378 0.00011
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser) rs371336335 0.00011
NM_022132.5(MCCC2):c.*1272A>G rs772502944 0.00009
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile) rs144631139 0.00009
NM_022132.5(MCCC2):c.*1354C>T rs538509005 0.00007
NM_022132.5(MCCC2):c.*699T>C rs886060741 0.00006
NM_022132.5(MCCC2):c.*856C>T rs886060744 0.00006
NM_022132.5(MCCC2):c.*1649C>T rs539578408 0.00005
NM_022132.5(MCCC2):c.384-20A>G rs770917710 0.00005
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala) rs277995 0.00005
NM_022132.5(MCCC2):c.*378T>A rs535221710 0.00004
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg) rs753784414 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His) rs750965429 0.00004
NM_022132.5(MCCC2):c.1488+3C>T rs374049769 0.00004
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu) rs1257849672 0.00004
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792 0.00004
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val) rs770437473 0.00004
NM_022132.5(MCCC2):c.418G>A (p.Val140Ile) rs553444289 0.00004
NM_022132.5(MCCC2):c.*1539G>T rs1031741545 0.00003
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=) rs749406136 0.00003
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln) rs767326357 0.00003
NM_022132.5(MCCC2):c.637A>G (p.Met213Val) rs769875413 0.00003
NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys) rs549784997 0.00003
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133 0.00003
NM_022132.5(MCCC2):c.*659C>T rs886060740 0.00002
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala) rs752139859 0.00002
NM_022132.5(MCCC2):c.129+3A>G rs1352606118 0.00002
NM_022132.5(MCCC2):c.1334A>G (p.Tyr445Cys) rs145475202 0.00002
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134 0.00002
NM_022132.5(MCCC2):c.*1144A>G rs886060747 0.00001
NM_022132.5(MCCC2):c.*719A>G rs986206032 0.00001
NM_022132.5(MCCC2):c.*839T>C rs886060743 0.00001
NM_022132.5(MCCC2):c.*878T>G rs886060745 0.00001
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg) rs759809368 0.00001
NM_022132.5(MCCC2):c.1108G>A (p.Val370Ile) rs760363054 0.00001
NM_022132.5(MCCC2):c.1154C>G (p.Thr385Ser) rs1427630056 0.00001
NM_022132.5(MCCC2):c.1178A>C (p.Gln393Pro) rs750782118 0.00001
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu) rs758506791 0.00001
NM_022132.5(MCCC2):c.1313C>A (p.Thr438Asn) rs779770835 0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg) rs766045910 0.00001
NM_022132.5(MCCC2):c.1381T>G (p.Phe461Val) rs1747390697 0.00001
NM_022132.5(MCCC2):c.1388A>G (p.Tyr463Cys) rs778734586 0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019 0.00001
NM_022132.5(MCCC2):c.147G>C (p.Met49Ile) rs756664143 0.00001
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His) rs745367639 0.00001
NM_022132.5(MCCC2):c.1574+5G>A rs781483923 0.00001
NM_022132.5(MCCC2):c.1619T>A (p.Val540Asp) rs766384881 0.00001
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val) rs778172446 0.00001
NM_022132.5(MCCC2):c.1688T>C (p.Met563Thr) rs373922744 0.00001
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe) rs748028684 0.00001
NM_022132.5(MCCC2):c.311C>T (p.Ala104Val) rs771719423 0.00001
NM_022132.5(MCCC2):c.326A>G (p.Tyr109Cys) rs1450884624 0.00001
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484 0.00001
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp) rs1402663229 0.00001
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) rs727504009 0.00001
NM_022132.5(MCCC2):c.484C>A (p.Gln162Lys) rs944412136 0.00001
NM_022132.5(MCCC2):c.578G>A (p.Arg193His) rs535519604 0.00001
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys) rs368906147 0.00001
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys) rs753735697 0.00001
NM_022132.5(MCCC2):c.675C>A (p.Ala225=) rs781610298 0.00001
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) rs1199145486 0.00001
NM_022132.5(MCCC2):c.851T>C (p.Leu284Pro) rs376237028 0.00001
NM_022132.5(MCCC2):c.884A>G (p.Asn295Ser) rs1368817393 0.00001
NM_022132.5(MCCC2):c.904-5T>A rs753258629 0.00001
NC_000005.9:g.(?_70808992)_(70952687_?)dup
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
NM_022132.5(MCCC2):c.*1591A>C rs1388895100
NM_022132.5(MCCC2):c.*1650G>A rs902451036
NM_022132.5(MCCC2):c.*16T>A rs1747596046
NM_022132.5(MCCC2):c.*246A>G rs965261367
NM_022132.5(MCCC2):c.*700G>T rs972036465
NM_022132.5(MCCC2):c.*843A>C rs1747622599
NM_022132.5(MCCC2):c.*940C>G rs886060746
NM_022132.5(MCCC2):c.1010G>C (p.Arg337Thr) rs980603424
NM_022132.5(MCCC2):c.103C>A (p.Pro35Thr)
NM_022132.5(MCCC2):c.1055G>T (p.Gly352Val)
NM_022132.5(MCCC2):c.1073-27T>C
NM_022132.5(MCCC2):c.1073-9T>C
NM_022132.5(MCCC2):c.1082G>A (p.Arg361Gln) rs991211481
NM_022132.5(MCCC2):c.1100T>C (p.Val367Ala)
NM_022132.5(MCCC2):c.1153A>G (p.Thr385Ala)
NM_022132.5(MCCC2):c.1159T>G (p.Phe387Val)
NM_022132.5(MCCC2):c.1171T>C (p.Cys391Arg) rs781478040
NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile) rs531994517
NM_022132.5(MCCC2):c.1192C>G (p.Leu398Val)
NM_022132.5(MCCC2):c.1196T>A (p.Leu399Gln) rs2112463776
NM_022132.5(MCCC2):c.1225G>A (p.Val409Ile) rs1373747202
NM_022132.5(MCCC2):c.122T>G (p.Leu41Arg)
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala) rs371587906
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly) rs371587906
NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys) rs1580262373
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val) rs766591766
NM_022132.5(MCCC2):c.1275G>A (p.Met425Ile) rs1747359594
NM_022132.5(MCCC2):c.1285G>C (p.Val429Leu) rs2112467816
NM_022132.5(MCCC2):c.129G>A (p.Gln43=) rs1580262388
NM_022132.5(MCCC2):c.1304C>G (p.Pro435Arg)
NM_022132.5(MCCC2):c.1331C>A (p.Ser444Tyr)
NM_022132.5(MCCC2):c.1407dup (p.Ile470fs) rs1561848250
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp) rs201060452
NM_022132.5(MCCC2):c.1471G>A (p.Ala491Thr)
NM_022132.5(MCCC2):c.1489-3T>A
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn) rs1391085331
NM_022132.5(MCCC2):c.1511C>T (p.Ala504Val)
NM_022132.5(MCCC2):c.152C>T (p.Ala51Val)
NM_022132.5(MCCC2):c.1553A>G (p.Asn518Ser) rs1747471598
NM_022132.5(MCCC2):c.1554C>A (p.Asn518Lys) rs2112472855
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe) rs1747472048
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly) rs1459143051
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
NM_022132.5(MCCC2):c.1570G>C (p.Ala524Pro) rs774241918
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1574+3G>T
NM_022132.5(MCCC2):c.1574+5G>T rs781483923
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly) rs1747591661
NM_022132.5(MCCC2):c.1590_1591delinsTT (p.Ile531Phe) rs2112478243
NM_022132.5(MCCC2):c.1601C>G (p.Pro534Arg)
NM_022132.5(MCCC2):c.1631G>A (p.Ser544Asn)
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1639G>A (p.Ala547Thr) rs758806872
NM_022132.5(MCCC2):c.1651G>A (p.Ala551Thr)
NM_022132.5(MCCC2):c.1670A>C (p.Asp557Ala)
NM_022132.5(MCCC2):c.1672T>C (p.Phe558Leu) rs2112478390
NM_022132.5(MCCC2):c.1674del (p.Phe558fs) rs1747594910
NM_022132.5(MCCC2):c.170A>G (p.His57Arg)
NM_022132.5(MCCC2):c.176G>A (p.Arg59Gln)
NM_022132.5(MCCC2):c.185A>G (p.His62Arg) rs1745040815
NM_022132.5(MCCC2):c.196+3A>G rs751519858
NM_022132.5(MCCC2):c.197-9C>G rs2112293394
NM_022132.5(MCCC2):c.224A>G (p.His75Arg)
NM_022132.5(MCCC2):c.226A>T (p.Ile76Leu) rs140027063
NM_022132.5(MCCC2):c.248C>G (p.Pro83Arg) rs1414470105
NM_022132.5(MCCC2):c.250A>G (p.Arg84Gly) rs1745187009
NM_022132.5(MCCC2):c.281+5G>T
NM_022132.5(MCCC2):c.284C>T (p.Ser95Phe)
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala) rs770208071
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys) rs119103219
NM_022132.5(MCCC2):c.332A>G (p.Asn111Ser)
NM_022132.5(MCCC2):c.335AGG[1] (p.Glu113del)
NM_022132.5(MCCC2):c.351_353del (p.Gly118del) rs758794885
NM_022132.5(MCCC2):c.365G>A (p.Gly122Asp)
NM_022132.5(MCCC2):c.383+4A>G rs1745349543
NM_022132.5(MCCC2):c.38C>G (p.Ala13Gly)
NM_022132.5(MCCC2):c.396G>A (p.Met132Ile)
NM_022132.5(MCCC2):c.422A>G (p.Lys141Arg)
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser) rs1468231692
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His) rs1745481314
NM_022132.5(MCCC2):c.433T>G (p.Tyr145Asp) rs1745481314
NM_022132.5(MCCC2):c.437A>G (p.Tyr146Cys) rs2112320371
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr) rs1554134065
NM_022132.5(MCCC2):c.457C>A (p.Gln153Lys)
NM_022132.5(MCCC2):c.479C>G (p.Ala160Gly) rs2112320728
NM_022132.5(MCCC2):c.544G>A (p.Ala182Thr)
NM_022132.5(MCCC2):c.554T>C (p.Phe185Ser)
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) rs797044772
NM_022132.5(MCCC2):c.560A>G (p.Asp187Gly)
NM_022132.5(MCCC2):c.567C>A (p.Asp189Glu) rs575600077
NM_022132.5(MCCC2):c.583T>C (p.Phe195Leu)
NM_022132.5(MCCC2):c.598A>G (p.Ile200Val) rs2112329325
NM_022132.5(MCCC2):c.617T>C (p.Ile206Thr) rs1745586663
NM_022132.5(MCCC2):c.619G>T (p.Ala207Ser) rs2112329415
NM_022132.5(MCCC2):c.625-11T>C
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)
NM_022132.5(MCCC2):c.670C>A (p.Pro224Thr)
NM_022132.5(MCCC2):c.703A>G (p.Lys235Glu)
NM_022132.5(MCCC2):c.728G>C (p.Gly243Ala) rs770351523
NM_022132.5(MCCC2):c.72C>G (p.His24Gln) rs374686220
NM_022132.5(MCCC2):c.738+2dup rs2112412775
NM_022132.5(MCCC2):c.738+6A>G
NM_022132.5(MCCC2):c.748G>A (p.Ala250Thr)
NM_022132.5(MCCC2):c.793C>G (p.Leu265Val)
NM_022132.5(MCCC2):c.794T>C (p.Leu265Pro) rs1746740255
NM_022132.5(MCCC2):c.802A>G (p.Arg268Gly) rs756477001
NM_022132.5(MCCC2):c.803+6A>G
NM_022132.5(MCCC2):c.811G>A (p.Gly271Arg) rs2112437351
NM_022132.5(MCCC2):c.848C>T (p.Ala283Val)
NM_022132.5(MCCC2):c.903+4A>T
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly) rs757389984
NM_022132.5(MCCC2):c.940G>A (p.Ala314Thr) rs2112438294
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) rs1443551700
NM_022132.5(MCCC2):c.962T>C (p.Val321Ala)
NM_022132.5(MCCC2):c.973C>T (p.Leu325Phe) rs2112438464
NM_022132.5(MCCC2):c.986T>C (p.Phe329Ser) rs2112438533
NM_022132.5(MCCC2):c.98C>T (p.Thr33Ile) rs2112251506
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp) rs1487531101

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.