List of variants reported as likely pathogenic for Pyruvate dehydrogenase E3-binding protein deficiency by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.419_420del (p.His140fs)	rs756985515	0.00001
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter)	rs1064796807
NM_003477.3(PDHX):c.657_669del (p.Val220fs)
NM_003477.3(PDHX):c.711dup (p.Thr238fs)	rs776567343
NM_003477.3(PDHX):c.798_800delinsCGGACAACCCAATGCAGTGGTAGTGT (p.Gly273fs)	rs2494721611

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.