ClinVar Miner

List of variants in gene EYS studied for Retinitis pigmentosa

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 276
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HGVS dbSNP
NC_000006.11:g.64666416_66194230del
NC_000006.11:g.65133931_65156120dup
NC_000006.11:g.65376653_65743428del
NC_000006.12:g.64349976_64426764del
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.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.2(EYS):c.-200G>A rs368932132
NM_001142800.2(EYS):c.-207A>G rs370140172
NM_001142800.2(EYS):c.-272T>C rs747914953
NM_001142800.2(EYS):c.-277C>G
NM_001142800.2(EYS):c.-332-10C>T rs868706829
NM_001142800.2(EYS):c.-333G>T
NM_001142800.2(EYS):c.-337T>A rs145321084
NM_001142800.2(EYS):c.-350G>A rs886061687
NM_001142800.2(EYS):c.-407C>G rs137924872
NM_001142800.2(EYS):c.-414G>A rs181146743
NM_001142800.2(EYS):c.-459C>T rs144371265
NM_001142800.2(EYS):c.-495T>C rs886061688
NM_001142800.2(EYS):c.-500A>G rs1490127
NM_001142800.2(EYS):c.-521C>T rs769167992
NM_001142800.2(EYS):c.-68C>T rs530118054
NM_001142800.2(EYS):c.-82T>C
NM_001142800.2(EYS):c.1005G>T (p.Glu335Asp)
NM_001142800.2(EYS):c.1056+11A>G
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434
NM_001142800.2(EYS):c.113C>A (p.Ser38Ter)
NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile) rs144935927
NM_001142800.2(EYS):c.1146T>C (p.Asn382=) rs974110
NM_001142800.2(EYS):c.1184+14T>C rs182780299
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp) rs201331309
NM_001142800.2(EYS):c.1232A>G (p.His411Arg) rs886061685
NM_001142800.2(EYS):c.1293A>T (p.Arg431Ser)
NM_001142800.2(EYS):c.1300-3C>T rs1936439
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744
NM_001142800.2(EYS):c.1345A>T (p.Lys449Ter) rs527236077
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr) rs76754818
NM_001142800.2(EYS):c.1459+5C>T rs200387978
NM_001142800.2(EYS):c.1490T>C (p.Ile497Thr)
NM_001142800.2(EYS):c.1497C>T (p.Ala499=)
NM_001142800.2(EYS):c.1558_1560AAT[1] (p.Asn521del) rs747069281
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) rs527236072
NM_001142800.2(EYS):c.1767-3C>G
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001142800.2(EYS):c.1811A>G (p.Asn604Ser)
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu) rs548565748
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) rs9342464
NM_001142800.2(EYS):c.1899A>G (p.Gln633=) rs373197894
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795
NM_001142800.2(EYS):c.1950G>A (p.Ala650=) rs565864295
NM_001142800.2(EYS):c.1961dup (p.Asn654fs) rs749103801
NM_001142800.2(EYS):c.1985G>T (p.Arg662Met) rs144430026
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2000G>T (p.Arg667Leu) rs549456693
NM_001142800.2(EYS):c.2023+5G>T rs1287889008
NM_001142800.2(EYS):c.2024-14C>T rs45628235
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met) rs199944222
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) rs376807770
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) rs372354156
NM_001142800.2(EYS):c.2077G>A (p.Gly693Arg)
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.2157C>T (p.Cys719=) rs9453148
NM_001142800.2(EYS):c.2222C>T (p.Ala741Val)
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001142800.2(EYS):c.2259+10C>T rs78511049
NM_001142800.2(EYS):c.2259+1G>A rs752736741
NM_001142800.2(EYS):c.2260-7C>T rs532797776
NM_001142800.2(EYS):c.2287T>C (p.Trp763Arg) rs886061684
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574
NM_001142800.2(EYS):c.232del (p.Cys78fs) rs1468020897
NM_001142800.2(EYS):c.2420del (p.Ser807fs)
NM_001142800.2(EYS):c.2483C>G (p.Thr828Ser)
NM_001142800.2(EYS):c.2499T>G (p.Phe833Leu) rs1554217626
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361
NM_001142800.2(EYS):c.2546G>A (p.Arg849His)
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631
NM_001142800.2(EYS):c.2562C>T (p.Asp854=) rs188011013
NM_001142800.2(EYS):c.2598C>T (p.Cys866=) rs183814213
NM_001142800.2(EYS):c.2613C>T (p.Asp871=) rs192059823
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455
NM_001142800.2(EYS):c.2641+13A>G
NM_001142800.2(EYS):c.2641+8C>A rs886061683
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595
NM_001142800.2(EYS):c.2738+13T>C rs886061682
NM_001142800.2(EYS):c.2739G>A (p.Arg913=) rs77020971
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln) rs111947397
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.2837T>C (p.Leu946Pro)
NM_001142800.2(EYS):c.2857A>G (p.Asn953Asp)
NM_001142800.2(EYS):c.2890G>A (p.Glu964Lys) rs886061681
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948
NM_001142800.2(EYS):c.2975G>T (p.Cys992Phe) rs566917467
NM_001142800.2(EYS):c.2992+9A>G rs886061680
NM_001142800.2(EYS):c.3243+1G>A
NM_001142800.2(EYS):c.3265A>G (p.Met1089Val)
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=) rs114282214
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.334G>C (p.Val112Leu) rs112609906
NM_001142800.2(EYS):c.3352A>G (p.Ile1118Val) rs886061679
NM_001142800.2(EYS):c.3444-5C>T rs9445051
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys) rs150951106
NM_001142800.2(EYS):c.350del (p.Asn117fs) rs1582376609
NM_001142800.2(EYS):c.3568+5T>C rs539477235
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.3684+2T>A rs1562094391
NM_001142800.2(EYS):c.3690C>T (p.Cys1230=) rs886061678
NM_001142800.2(EYS):c.3694A>G (p.Ile1232Val)
NM_001142800.2(EYS):c.3715G>T (p.Glu1239Ter) rs1582932583
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val) rs17404123
NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly)
NM_001142800.2(EYS):c.3855G>T (p.Met1285Ile) rs886061677
NM_001142800.2(EYS):c.3906C>T (p.His1302=) rs12663916
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=) rs12662610
NM_001142800.2(EYS):c.3949A>G (p.Thr1317Ala)
NM_001142800.2(EYS):c.3972C>T (p.Leu1324=)
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) rs12663622
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=) rs12663619
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs) rs1582376398
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180
NM_001142800.2(EYS):c.4052T>G (p.Leu1351Arg) rs759027016
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519
NM_001142800.2(EYS):c.4099T>C (p.Ser1367Pro)
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851
NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser) rs200318120
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828
NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val)
NM_001142800.2(EYS):c.4387del (p.Arg1463fs) rs527236075
NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser)
NM_001142800.2(EYS):c.4395_4402dup (p.Asp1468fs) rs527236073
NM_001142800.2(EYS):c.4440A>G (p.Arg1480=) rs886061675
NM_001142800.2(EYS):c.453T>A (p.Val151=) rs373183802
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=) rs62415825
NM_001142800.2(EYS):c.4606C>A (p.Gln1536Lys) rs557152369
NM_001142800.2(EYS):c.4607A>G (p.Gln1536Arg) rs528387472
NM_001142800.2(EYS):c.4663A>G (p.Thr1555Ala) rs886061674
NM_001142800.2(EYS):c.4825_4828CATT[1] (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.4864G>A (p.Ala1622Thr) rs533075374
NM_001142800.2(EYS):c.487C>T (p.Leu163Phe)
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile)
NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter) rs527236074
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr) rs75831552
NM_001142800.2(EYS):c.5053T>G (p.Ser1685Ala) rs759642068
NM_001142800.2(EYS):c.5140A>C (p.Thr1714Pro) rs201916371
NM_001142800.2(EYS):c.5202_5203del (p.Phe1735fs) rs527236071
NM_001142800.2(EYS):c.522C>T (p.Cys174=)
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe) rs57312007
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) rs1554183440
NM_001142800.2(EYS):c.536G>A (p.Ser179Asn)
NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter) rs1554183432
NM_001142800.2(EYS):c.5409A>G (p.Ser1803=) rs886061673
NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter)
NM_001142800.2(EYS):c.5436A>C (p.Val1812=)
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter) rs983691310
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153
NM_001142800.2(EYS):c.5484A>C (p.Lys1828Asn)
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=) rs747911999
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe) rs542339299
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val) rs16895517
NM_001142800.2(EYS):c.5618T>G (p.Leu1873Arg) rs750613634
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) rs139822086
NM_001142800.2(EYS):c.5644+7T>G rs539437238
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806
NM_001142800.2(EYS):c.5728G>A (p.Glu1910Lys)
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810
NM_001142800.2(EYS):c.5755C>T (p.Leu1919Phe)
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs)
NM_001142800.2(EYS):c.5805dup (p.Gln1936fs)
NM_001142800.2(EYS):c.583A>C (p.Ser195Arg)
NM_001142800.2(EYS):c.5866T>G (p.Phe1956Val)
NM_001142800.2(EYS):c.5903G>A (p.Gly1968Glu)
NM_001142800.2(EYS):c.5928-2A>G rs181169439
NM_001142800.2(EYS):c.5928-3_5928-1del rs1554152094
NM_001142800.2(EYS):c.592T>A (p.Tyr198Asn) rs886061686
NM_001142800.2(EYS):c.5935T>C (p.Leu1979=) rs962496239
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356
NM_001142800.2(EYS):c.6010G>A (p.Gly2004Arg)
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp) rs886061672
NM_001142800.2(EYS):c.6079_6191del (p.Met2027Ilefs)
NM_001142800.2(EYS):c.6112A>G (p.Ile2038Val)
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.613C>T (p.Pro205Ser) rs1554202833
NM_001142800.2(EYS):c.6174T>G (p.Tyr2058Ter)
NM_001142800.2(EYS):c.6188G>T (p.Cys2063Phe)
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu) rs200374024
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr) rs770111708
NM_001142800.2(EYS):c.632G>T (p.Cys211Phe) rs772707303
NM_001142800.2(EYS):c.6452A>G (p.Asn2151Ser) rs141603172
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735
NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter) rs1554204963
NM_001142800.2(EYS):c.6510C>T (p.Asn2170=)
NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val) rs148019592
NM_001142800.2(EYS):c.6540_6543AACA[1] (p.Asn2182fs)
NM_001142800.2(EYS):c.6545del (p.Asn2182fs) rs1346842287
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) rs527236068
NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs) rs1582221424
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.6725+9T>C rs886061671
NM_001142800.2(EYS):c.67dup (p.Thr23fs)
NM_001142800.2(EYS):c.6822C>A (p.Ser2274=) rs1055095941
NM_001142800.2(EYS):c.6899G>T (p.Gly2300Val) rs531588707
NM_001142800.2(EYS):c.6912G>A (p.Gly2304=) rs745961740
NM_001142800.2(EYS):c.6934C>T (p.Leu2312Phe) rs564315274
NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter) rs1554194404
NM_001142800.2(EYS):c.6961A>C (p.Ile2321Leu)
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457
NM_001142800.2(EYS):c.7034G>A (p.Arg2345His) rs201304559
NM_001142800.2(EYS):c.7047C>A (p.Thr2349=)
NM_001142800.2(EYS):c.7048del (p.Cys2350fs) rs527236069
NM_001142800.2(EYS):c.7056-15T>A rs139056492
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575
NM_001142800.2(EYS):c.7133A>G (p.Asn2378Ser)
NM_001142800.2(EYS):c.716C>T (p.Ala239Val) rs150140204
NM_001142800.2(EYS):c.7202G>C (p.Gly2401Ala) rs886061670
NM_001142800.2(EYS):c.7261A>C (p.Thr2421Pro) rs886061669
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser) rs145184183
NM_001142800.2(EYS):c.7411+11C>T rs886061668
NM_001142800.2(EYS):c.7412-1G>C rs1167742176
NM_001142800.2(EYS):c.749-1G>C
NM_001142800.2(EYS):c.7597A>G (p.Lys2533Glu) rs114512007
NM_001142800.2(EYS):c.7620A>C (p.Arg2540Ser) rs886061667
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) rs66462731
NM_001142800.2(EYS):c.7694del (p.Asn2565fs) rs527236078
NM_001142800.2(EYS):c.7724-12C>T
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522
NM_001142800.2(EYS):c.7737T>G (p.Thr2579=)
NM_001142800.2(EYS):c.777G>A (p.Gln259=) rs78079047
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) rs527236064
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274
NM_001142800.2(EYS):c.77G>A (p.Arg26Gln)
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825
NM_001142800.2(EYS):c.7898+12G>A
NM_001142800.2(EYS):c.7915G>A (p.Gly2639Arg)
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) rs527236066
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076
NM_001142800.2(EYS):c.8035T>G (p.Cys2679Gly) rs1064797324
NM_001142800.2(EYS):c.8044_8045insA (p.Gly2682fs)
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu) rs919157306
NM_001142800.2(EYS):c.8105del (p.Asn2702fs) rs1582146096
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752
NM_001142800.2(EYS):c.812G>A (p.Ser271Asn)
NM_001142800.2(EYS):c.8153_8154CA[1] (p.His2719fs) rs764229134
NM_001142800.2(EYS):c.8167C>T (p.Gln2723Ter) rs1168129071
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857
NM_001142800.2(EYS):c.8211A>C (p.Ala2737=)
NM_001142800.2(EYS):c.8233+8T>G rs886061666
NM_001142800.2(EYS):c.847G>A (p.Asp283Asn)
NM_001142800.2(EYS):c.873T>A (p.Cys291Ter) rs777482895
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
Single allele

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