ClinVar Miner

List of variants reported as benign for Methylcrotonyl-CoA carboxylase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_001363880.1(MCCC1):c.-290G>C rs937652
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907
NM_022132.5(MCCC2):c.511+7dup rs200382661

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.