ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538

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.