ClinVar Miner

List of variants reported as pathogenic for 3-hydroxyacyl-CoA dehydrogenase deficiency by Mendelics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_000182.5(HADHA):c.1689+2T>G rs1574602991
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter) rs146538551
NM_005327.7(HADH):c.261+1G>A rs1398546361
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504

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.