ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter)

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.