ClinVar Miner

List of variants in gene EYS reported by Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_001142800.1(EYS):c.(2641+1_2642-1)_(2846+1_2847-1)del
NM_001142800.1(EYS):c.(6078+1_6079-1)_(6191+1_6192-1)dup
NM_001142800.1:c.(2023+1_2024-1)_(3443+1_3444-1)del
NM_001142800.1:c.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
NM_001142800.2(EYS):c.1459+5C>T rs200387978
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2023+5G>T
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.232del (p.Cys78fs)
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
NM_001142800.2(EYS):c.350del (p.Asn117fs)
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4825_4828CATT[1] (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.6079_6191del (p.Met2027Ilefs)
NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs)
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.7412-1G>C
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.873T>A (p.Cys291Ter)
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256

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.