ClinVar Miner

List of variants in gene EGR2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000399.5(EGR2):c.*288G>A rs117395928 0.00758
NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro) rs146116229 0.00148
NM_000399.5(EGR2):c.909A>C (p.Ala303=) rs112474655 0.00099
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451 0.00074
NM_000399.5(EGR2):c.534A>G (p.Ala178=) rs370084216 0.00027
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213 0.00023
NM_000399.5(EGR2):c.*17_*19del rs750211494 0.00015
NM_000399.5(EGR2):c.840G>C (p.Val280=) rs563282095 0.00006
NM_000399.5(EGR2):c.-211T>C rs1057521260 0.00001
NM_000399.5(EGR2):c.9C>T (p.Thr3=) rs1554853482 0.00001
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.198A>C (p.Gly66=) rs201770282

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.