ClinVar Miner

List of variants in gene CLCN1 reported as uncertain significance for Congenital myotonia, autosomal recessive form

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu) rs772430525
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140

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.