ClinVar Miner

List of variants reported as benign for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_022132.5(MCCC2):c.904-12A>G rs277984 0.30658
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907 0.01062
NM_022132.5(MCCC2):c.282-7G>A rs115078899 0.00399
NM_022132.5(MCCC2):c.969T>C (p.Ala323=) rs112793062 0.00228
NM_022132.5(MCCC2):c.1217-7C>G rs148369119 0.00171
NM_022132.5(MCCC2):c.450G>C (p.Val150=) rs151098534 0.00121
NM_022132.5(MCCC2):c.511+7dup rs200382661 0.00068
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926 0.00041
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577 0.00003
NM_022132.5(MCCC2):c.1373+18C>T rs200716557 0.00002
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484 0.00001
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly) rs371587906
NM_022132.5(MCCC2):c.1574+7dup
NM_022132.5(MCCC2):c.1575-15_1575-14del

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.