ClinVar Miner

Variants in gene PDHX with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_003477.3(PDHX):c.474G>A (p.Glu158=) rs148723565 0.00243
NM_003477.3(PDHX):c.642-19A>G rs138324257 0.00151
NM_003477.3(PDHX):c.618C>G (p.Gly206=) rs143997835 0.00126
NM_003477.3(PDHX):c.1503C>T (p.Ala501=) rs151049569 0.00083
NM_003477.3(PDHX):c.579A>G (p.Glu193=) rs61752926 0.00082
NM_003477.3(PDHX):c.161-6T>C rs200438675 0.00056
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile) rs146876119 0.00039
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) rs146445744 0.00036
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716 0.00021
NM_003477.3(PDHX):c.161-10dup rs771708416

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.