ClinVar Miner

List of variants in gene KCNJ10 reported as uncertain significance for Enlarged vestibular aqueduct; Pendred syndrome; SeSAME syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) rs373899425
NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp) rs769666695
NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) rs558502886

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.