ClinVar Miner

List of variants reported as benign for Pyruvate dehydrogenase E1-beta deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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.438G>A (p.Gly146=) rs1126551 0.30058
NM_000925.4(PDHB):c.435= (p.Arg145=) rs1438518070 0.01529
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 0.00077
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.700+9del rs2471366628

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.