ClinVar Miner

List of variants in gene EYS studied for Retinal dystrophy

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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP
NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del
NM_001142800.1:c.(2023+1_2024-1)_(3443+1_3444-1)del
NM_001142800.2(EYS):c.-448+5G>A
NM_001142800.2(EYS):c.-453G>T
NM_001142800.2(EYS):c.1068C>A (p.Cys356Ter)
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166
NM_001142800.2(EYS):c.1207A>T (p.Lys403Ter)
NM_001142800.2(EYS):c.1211del (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1222del (p.Ala408fs)
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777
NM_001142800.2(EYS):c.1766+2645G>A
NM_001142800.2(EYS):c.1784_1787del (p.Ser595fs)
NM_001142800.2(EYS):c.1871C>A (p.Ser624Ter)
NM_001142800.2(EYS):c.1982T>A (p.Leu661Ter)
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2024-13del
NM_001142800.2(EYS):c.2024-15T>C
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) rs376807770
NM_001142800.2(EYS):c.2068T>A (p.Cys690Ser) rs370950723
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.216del (p.Ala73fs)
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.220del (p.Val74fs)
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) rs371032798
NM_001142800.2(EYS):c.2381+1G>A
NM_001142800.2(EYS):c.2545C>T (p.Arg849Cys)
NM_001142800.2(EYS):c.2596T>C (p.Cys866Arg)
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455
NM_001142800.2(EYS):c.2641G>A (p.Glu881Lys)
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter)
NM_001142800.2(EYS):c.2822G>T (p.Gly941Val) rs749101387
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349
NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter)
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter) rs1554214453
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter)
NM_001142800.2(EYS):c.3071A>G (p.Asn1024Ser)
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190
NM_001142800.2(EYS):c.32dup (p.Met12fs)
NM_001142800.2(EYS):c.334G>C (p.Val112Leu) rs112609906
NM_001142800.2(EYS):c.3443+1G>T rs373441420
NM_001142800.2(EYS):c.3549T>G (p.Tyr1183Ter)
NM_001142800.2(EYS):c.3568+1G>A
NM_001142800.2(EYS):c.3579_3580AC[1] (p.His1194fs)
NM_001142800.2(EYS):c.4046G>A (p.Arg1349Gln)
NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter)
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557
NM_001142800.2(EYS):c.4518del (p.Ile1507fs)
NM_001142800.2(EYS):c.491G>A (p.Arg164Gln)
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)
NM_001142800.2(EYS):c.4993_4994delinsA (p.Cys1665fs)
NM_001142800.2(EYS):c.5116C>G (p.Gln1706Glu)
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn) rs145274061
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) rs1554183440
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810
NM_001142800.2(EYS):c.5777A>G (p.Asp1926Gly) rs727503922
NM_001142800.2(EYS):c.5810T>G (p.Leu1937Trp)
NM_001142800.2(EYS):c.5847C>A (p.Tyr1949Ter)
NM_001142800.2(EYS):c.5928-2A>G rs181169439
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.6191+2T>C
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) rs527236068
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.6726-2973_6834+548del
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.6874A>C (p.Asn2292His)
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs)
NM_001142800.2(EYS):c.748+6A>T rs373742788
NM_001142800.2(EYS):c.749-1G>C
NM_001142800.2(EYS):c.7568G>A (p.Gly2523Asp)
NM_001142800.2(EYS):c.7578+1G>A
NM_001142800.2(EYS):c.7721A>C (p.Gln2574Pro)
NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs)
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522
NM_001142800.2(EYS):c.7748G>A (p.Arg2583His)
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160
NM_001142800.2(EYS):c.786dup (p.His263fs)
NM_001142800.2(EYS):c.788A>G (p.His263Arg) rs139517572
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter) rs1197863938
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) rs527236066
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe) rs374714909
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu) rs1435861529
NM_001142800.2(EYS):c.8035T>C (p.Cys2679Arg)
NM_001142800.2(EYS):c.803del (p.Gly268fs)
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752
NM_001142800.2(EYS):c.8120T>G (p.Met2707Arg)
NM_001142800.2(EYS):c.8122_8125delinsG (p.Ser2708_Phe2709delinsVal)
NM_001142800.2(EYS):c.8151G>A (p.Lys2717=)
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)
NM_001142800.2(EYS):c.8233+1G>C
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070
NM_001142800.2(EYS):c.967G>T (p.Gly323Ter)
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256

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