ClinVar Miner

List of variants reported as uncertain significance for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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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.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.*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.*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.*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.*941A>G rs537387461 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.*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.*378T>A rs535221710 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 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.*1539G>T rs1031741545 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.*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.1574+5G>A rs781483923 0.00001
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484 0.00001
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys) rs368906147 0.00001
NM_022132.5(MCCC2):c.675C>A (p.Ala225=) rs781610298 0.00001
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.1225G>A (p.Val409Ile) rs1373747202
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.1407dup (p.Ile470fs) rs1561848250
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly) rs1747591661
NM_022132.5(MCCC2):c.383+4A>G rs1745349543
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His) rs1745481314
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly) rs757389984

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