ClinVar Miner

List of variants reported as likely pathogenic for Pyruvate dehydrogenase E1-alpha deficiency by SingHealth Duke-NUS Institute of Precision Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs) rs1569191879
NM_001166158.1(PDHX):c.-197del rs1158194122

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.