ClinVar Miner

List of variants reported as pathogenic for cone-rod dystrophy 2 by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_001386393.1(PANK2):c.987del (p.Arg330fs) rs544616523 0.00001
NM_014249.4(NR2E3):c.724_725del (p.Ser242fs) rs750740765
NM_153638.2(PANK2):c.(?_-6)_(1662+1_1663-1)del

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.