ClinVar Miner

List of variants in gene EYS reported as likely pathogenic for Retinal dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166
NM_001142800.2(EYS):c.1211del (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter) rs1554214453
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.6726-2973_6834+548del
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu) rs1435861529
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) rs869312188

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.