ClinVar Miner

List of variants reported as pathogenic for auditory system disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_001012426.2(FOXP4):c.1540G>A (p.Ala514Thr) rs2127404974
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_022124.6(CDH23):c.9389_9390del (p.Pro3130fs) rs2133006702
NM_031475.3(ESPN):c.1916-1G>C rs1643944047

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.