ClinVar Miner

List of variants in gene ERCC2 reported as likely benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_000400.3(ERCC2):c.1737C>T (p.Val579=) rs3916876
NM_000400.3(ERCC2):c.1905G>A (p.Ala635=) rs145835916
NM_000400.3(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile) rs531021258
NM_000400.4(ERCC2):c.1832-6C>T rs1799789
NM_000400.4(ERCC2):c.1845G>A (p.Gly615=) rs1599725250
NM_000400.4(ERCC2):c.2191-4G>A rs201840907
NM_000400.4(ERCC2):c.387C>T (p.Asp129=) rs199993007

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.