ClinVar Miner

List of variants reported as uncertain significance for Pyruvate dehydrogenase E1-alpha deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del)
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg) rs1057518695
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val)
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala)

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.