ClinVar Miner

List of variants reported as likely pathogenic for Pyruvate dehydrogenase E3-binding protein deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala) rs756023441 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NC_000011.9:g.(34953032_34969052)_(34999730_35006116)del
NC_000011.9:g.(34988362_34991685)_(34991834_34999670)del
NM_003477.3(PDHX):c.1012dup (p.Val338fs)
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_003477.3(PDHX):c.557del (p.Pro186fs)
NM_003477.3(PDHX):c.70C>T (p.Arg24Ter)
NM_003477.3(PDHX):c.791C>G (p.Ser264Ter)
NM_003477.3(PDHX):c.793dup (p.Thr265fs) rs1057518180
Single allele

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.