ClinVar Miner

List of variants in gene CTSC reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001814.6(CTSC):c.1317C>G (p.Phe439Leu) rs755360200 0.00001
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg) rs104894208 0.00001
NM_001814.6(CTSC):c.1337A>C (p.Asp446Ala) rs1224318776
NM_001814.6(CTSC):c.1344_1345del (p.Ala449fs) rs771873680
NM_001814.6(CTSC):c.380A>G (p.His127Arg)
NM_001814.6(CTSC):c.800T>C (p.Leu267Pro) rs2134765897

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.