ClinVar Miner

List of variants in gene CASK reported as likely benign by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.1234-22G>A rs5963260 0.02684
NM_001367721.1(CASK):c.1234-30G>A rs5964019 0.02683
NM_001367721.1(CASK):c.2040-9A>G rs138290714 0.00595
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_001367721.1(CASK):c.600A>G (p.Val200=) rs147738759 0.00024
NM_001367721.1(CASK):c.2433C>T (p.His811=) rs371990384 0.00011
NM_001367721.1(CASK):c.1860A>G (p.Gln620=) rs773445513 0.00007
NM_001367721.1(CASK):c.1315-10A>G rs375004542 0.00006

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.