ClinVar Miner

List of variants in gene CAV3, OXTR studied for Elevated circulating creatine kinase concentration

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033337.3(CAV3):c.134T>A (p.Ile45Asn) rs1553614409
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) rs116840789
NM_033337.3(CAV3):c.290_292del (p.Phe97del) rs199476335

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.