List of variants reported as pathogenic for 3-methylcrotonyl-CoA carboxylase deficiency by Revvity Omics, Revvity

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00057
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)	rs119103213	0.00008
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)	rs185741664	0.00002
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)	rs727504010	0.00001
NM_020166.5(MCCC1):c.1254_1255del (p.Gly419fs)	rs2108478897
NM_020166.5(MCCC1):c.227_228del (p.Val76fs)	rs1718431677
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)	rs2112251855
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)	rs752593298

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.