List of variants studied for Pyruvate dehydrogenase E1-beta deficiency by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)	rs151247980	0.00005
NM_000925.4(PDHB):c.301A>G (p.Met101Val)	rs747573712	0.00003
NM_000925.4(PDHB):c.106C>T (p.Arg36Cys)	rs763842440	0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)	rs199983136	0.00002
NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser)	rs28933391
NM_000925.4(PDHB):c.302T>C (p.Met101Thr)	rs2062921303
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)	rs201199166
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln)	rs868788199
NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys)	rs28935769
NM_000925.4(PDHB):c.494G>C (p.Trp165Ser)	rs2062912705
NM_000925.4(PDHB):c.916T>C (p.Cys306Arg)	rs145876456

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.