ClinVar Miner

Variants in gene EGR2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro) rs146116229 0.00148
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487 0.00039
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386 0.00018
NM_000399.5(EGR2):c.832G>A (p.Ala278Thr) rs565355765 0.00004
NM_000399.5(EGR2):c.108G>A (p.Val36=) rs746579337 0.00002
NM_000399.5(EGR2):c.1395G>A (p.Pro465=) rs779811073 0.00002
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272

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.