ClinVar Miner

List of variants reported as likely benign for 3-methylcrotonyl-CoA carboxylase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.*1351G>A rs144494459 0.01269
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_022132.5(MCCC2):c.*245T>C rs11551918 0.01133
NM_022132.5(MCCC2):c.*1080G>T rs7727902 0.01132
NM_022132.5(MCCC2):c.*577T>A rs150412501 0.00871
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268 0.00817
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577 0.00003
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NM_022132.5(MCCC2):c.*970G>A rs368250327

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.