ClinVar Miner

List of variants in gene EGR2 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487 0.00039
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213 0.00024
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.840G>C (p.Val280=) rs563282095 0.00006
NM_000399.5(EGR2):c.711C>A (p.Asp237Glu) rs1011150442 0.00004
NM_000399.5(EGR2):c.832G>A (p.Ala278Thr) rs565355765 0.00004
NM_000399.5(EGR2):c.1395G>A (p.Pro465=) rs779811073 0.00002
NM_000399.5(EGR2):c.165C>G (p.Ala55=) rs151290032 0.00001
NM_000399.5(EGR2):c.96C>T (p.Ala32=) rs769285458 0.00001
NM_000399.5(EGR2):c.1069C>T (p.Leu357=)
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1231G>T (p.Asp411Tyr) rs1842163821
NM_000399.5(EGR2):c.1290C>T (p.Ala430=)
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.210G>C (p.Ser70=) rs776156156
NM_000399.5(EGR2):c.539A>C (p.Asp180Ala) rs762505978
NM_000399.5(EGR2):c.645G>A (p.Thr215=) rs781408172
NM_000399.5(EGR2):c.853G>A (p.Ala285Thr) rs1842183959
NM_001136178.2(EGR2):c.-125C>T

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.