ClinVar Miner

List of variants in gene EYS reported as uncertain significance by Counsyl

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.3112_3113ins12 (p.?) rs1554207076
NM_001142800.2(EYS):c.1459+5C>T rs200387978
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177
NM_001142800.2(EYS):c.1766+2598del rs765911767
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2260-2dup rs1554220492
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu) rs766153322
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp) rs762212630
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg) rs371491059
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys) rs150951106
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr) rs146413074
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val) rs184448644
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359
NM_001142800.2(EYS):c.7073_7081dup (p.Phe2358_Glu2360dup) rs1372494388
NM_001142800.2(EYS):c.7205G>A (p.Arg2402Lys) rs766515998
NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys) rs768964978
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly) rs1554163939
NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu) rs79036642
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.