ClinVar Miner

List of variants reported as benign for Pyruvate dehydrogenase E1-beta deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746 0.98352
NM_000925.4(PDHB):c.701-64G>T rs2070662 0.72970
NM_000925.4(PDHB):c.*296C>G rs7231 0.72833
NM_000925.4(PDHB):c.267+42G>A rs62259772 0.30062
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_000925.4(PDHB):c.*243A>C rs1126722 0.29583
NM_000925.4(PDHB):c.*353T>C rs1126735 0.28091
NM_000925.4(PDHB):c.793-41G>A rs62259769 0.22293
NM_000925.4(PDHB):c.*99C>T rs7230 0.22245
NM_000925.4(PDHB):c.*356A>G rs1126737 0.22224
NM_000925.4(PDHB):c.935-146G>C rs6445980 0.13601
NM_000925.4(PDHB):c.701-41G>A rs4585221 0.06991
NM_000925.4(PDHB):c.435= (p.Arg145=) rs1438518070 0.01648
NM_000925.3(PDHB):c.-26G>A rs201243189 0.00640
NM_000925.4(PDHB):c.303+16T>C rs75014325 0.00417
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142 0.00082
NM_000925.4(PDHB):c.204+9A>C rs202068841 0.00029
NM_000925.4(PDHB):c.43-18T>C rs548113809 0.00001
NM_000925.4(PDHB):c.*92C>A rs4228
NM_000925.4(PDHB):c.700+9del

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.