ClinVar Miner

List of variants studied for achromatopsia 3 by Mendelics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_019098.4(CNGB3):c.1810C>T (p.Arg604Ter) rs200805087
NM_019098.4(CNGB3):c.2T>C (p.Met1Thr) rs1554619514
NM_019098.4(CNGB3):c.702T>G (p.Cys234Trp) rs6471482
NM_019098.4(CNGB3):c.852+1G>T rs1201521544
NM_019098.4(CNGB3):c.892A>C (p.Thr298Pro) rs4961206

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.