ClinVar Miner

List of variants in gene CLCN1 studied for Myotonia; EMG: myotonic discharges

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
Download table as spreadsheet
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu) rs1554436510
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) rs1057518917
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531

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.