ClinVar Miner

List of variants in gene EYS reported as likely benign by Illumina Clinical Services Laboratory,Illumina

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.-500A>G rs1490127
NM_001142800.1(EYS):c.1146T>C (p.Asn382=) rs974110
NM_001142800.1(EYS):c.1300-3C>T rs1936439
NM_001142800.1(EYS):c.1712A>G (p.Gln571Arg) rs61753610
NM_001142800.1(EYS):c.1922A>T (p.Glu641Val) rs17411795
NM_001142800.1(EYS):c.2023+15delT rs35045551
NM_001142800.1(EYS):c.2024-14C>T rs45628235
NM_001142800.1(EYS):c.2024-14_2024-13insT rs142590049
NM_001142800.1(EYS):c.2157C>T (p.Cys719=) rs9453148
NM_001142800.1(EYS):c.2739G>A (p.Arg913=) rs77020971
NM_001142800.1(EYS):c.3444-5C>T rs9445051
NM_001142800.1(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.1(EYS):c.3787A>G (p.Ile1263Val) rs17404123
NM_001142800.1(EYS):c.3906C>T (p.His1302=) rs12663916
NM_001142800.1(EYS):c.3936A>G (p.Thr1312=) rs12662610
NM_001142800.1(EYS):c.3973C>G (p.Gln1325Glu) rs12663622
NM_001142800.1(EYS):c.4026C>T (p.Ser1342=) rs12663619
NM_001142800.1(EYS):c.4081A>G (p.Ile1361Val) rs17403955
NM_001142800.1(EYS):c.4352T>C (p.Ile1451Thr) rs62415828
NM_001142800.1(EYS):c.4543C>T (p.Arg1515Trp) rs62415827
NM_001142800.1(EYS):c.4549A>G (p.Ser1517Gly) rs62415826
NM_001142800.1(EYS):c.4593G>A (p.Glu1531=) rs62415825
NM_001142800.1(EYS):c.5244A>C (p.Leu1748Phe) rs57312007
NM_001142800.1(EYS):c.5617C>G (p.Leu1873Val) rs16895517
NM_001142800.1(EYS):c.5705A>T (p.Asn1902Ile) rs9353806
NM_001142800.1(EYS):c.5977A>G (p.Thr1993Ala) rs115066356
NM_001142800.1(EYS):c.6977G>A (p.Arg2326Gln) rs4710457
NM_001142800.1(EYS):c.7666A>T (p.Ser2556Cys) rs66462731

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.