ClinVar Miner

List of variants reported as likely pathogenic by INGEBI, INGEBI / CONICET

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr) rs1268045311 0.00001
NM_004004.6(GJB2):c.326G>T (p.Gly109Val) rs374572413
NM_004004.6(GJB2):c.382A>G (p.Ile128Val) rs1959058329
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205

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.