ClinVar Miner

List of variants in gene EYS reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.77065
NM_001142800.2(EYS):c.1300-3C>T rs1936439 0.67522
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.67363
NM_001142800.2(EYS):c.1146T>C (p.Asn382=) rs974110 0.52503
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) rs9342464 0.50535
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_001142800.2(EYS):c.2024-14_2024-13insT rs142590049 0.21040
NM_001142800.2(EYS):c.-500A>G rs1490127 0.20918
NM_001142800.2(EYS):c.2024-14C>T rs45628235 0.20204
NM_001142800.2(EYS):c.3444-5C>T rs9445051 0.19475
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795 0.16501
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_001142800.2(EYS):c.3906C>T (p.His1302=) rs12663916 0.10887
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe) rs57312007 0.10595
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=) rs12662610 0.10143
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.09865
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=) rs12663619 0.09859
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=) rs62415825 0.09856
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.09853
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val) rs17404123 0.09852
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) rs12663622 0.09847
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827 0.09842
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826 0.09832
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val) rs16895517 0.09577
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) rs66462731 0.08861
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356 0.02657
NM_001142800.2(EYS):c.2157C>T (p.Cys719=) rs9453148 0.02573
NM_001142800.2(EYS):c.2739G>A (p.Arg913=) rs77020971 0.02117
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595 0.01917
NM_001142800.2(EYS):c.7597A>G (p.Lys2533Glu) rs114512007 0.01679
NM_001142800.2(EYS):c.-459C>T rs144371265 0.01261
NM_001142800.2(EYS):c.6452A>G (p.Asn2151Ser) rs141603172 0.01185
NM_001142800.2(EYS):c.777G>A (p.Gln259=) rs78079047 0.01169
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr) rs75831552 0.01062
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519 0.00905
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=) rs114282214 0.00622
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274 0.00587
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln) rs111947397 0.00404
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_001142800.2(EYS):c.2259+10C>T rs78511049 0.00343
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_001142800.2(EYS):c.2613C>T (p.Asp871=) rs192059823 0.00284
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) rs139822086 0.00273
NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser) rs200318120 0.00269
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210 0.00223
NM_001142800.2(EYS):c.-337T>A rs145321084 0.00201
NM_001142800.2(EYS):c.1985G>T (p.Arg662Met) rs144430026 0.00193
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_001142800.2(EYS):c.-414G>A rs181146743 0.00187
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522 0.00175
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val) rs148019592 0.00165
NM_001142800.2(EYS):c.1899A>G (p.Gln633=) rs373197894 0.00153
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359 0.00148
NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile) rs144935927 0.00133
NM_001142800.2(EYS):c.1184+14T>C rs182780299 0.00132
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153 0.00132
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00124
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) rs376807770 0.00108
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518 0.00083
NM_001142800.2(EYS):c.2562C>T (p.Asp854=) rs188011013 0.00081
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu) rs200374024 0.00081
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys) rs150951106 0.00076
NM_001142800.2(EYS):c.7056-15T>A rs139056492 0.00067
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_001142800.2(EYS):c.1459+5C>T rs200387978 0.00061
NM_001142800.2(EYS):c.-521C>T rs769167992 0.00057
NM_001142800.2(EYS):c.7034G>A (p.Arg2345His) rs201304559 0.00055
NM_001142800.2(EYS):c.716C>T (p.Ala239Val) rs150140204 0.00054
NM_001142800.2(EYS):c.-207A>G rs370140172 0.00051
NM_001142800.2(EYS):c.2598C>T (p.Cys866=) rs183814213 0.00040
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854 0.00036
NM_001142800.2(EYS):c.-200G>A rs368932132 0.00035
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001142800.2(EYS):c.3568+5T>C rs539477235 0.00034
NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val) rs183144150 0.00034
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=) rs747911999 0.00029
NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val) rs35504565 0.00029
NM_001142800.2(EYS):c.7724-12C>T rs144282503 0.00026
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00024
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_001142800.2(EYS):c.1056+11A>G rs201004766 0.00021
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met) rs199944222 0.00021
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile) rs561830314 0.00021
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574 0.00019
NM_001142800.2(EYS):c.2822G>T (p.Gly941Val) rs749101387 0.00019
NM_001142800.2(EYS):c.5883T>G (p.Thr1961=) rs779530881 0.00016
NM_001142800.2(EYS):c.453T>A (p.Val151=) rs373183802 0.00015
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr) rs76754818 0.00011
NM_001142800.2(EYS):c.5053T>G (p.Ser1685Ala) rs759642068 0.00011
NM_001142800.2(EYS):c.6188G>T (p.Cys2063Phe) rs138123230 0.00011
NM_001142800.2(EYS):c.-68C>T rs530118054 0.00010
NM_001142800.2(EYS):c.2260-7C>T rs532797776 0.00010
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434 0.00008
NM_001142800.2(EYS):c.4864G>A (p.Ala1622Thr) rs533075374 0.00008
NM_001142800.2(EYS):c.6510C>T (p.Asn2170=) rs756110037 0.00008
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp) rs201331309 0.00007
NM_001142800.2(EYS):c.-272T>C rs747914953 0.00006
NM_001142800.2(EYS):c.-332-10C>T rs868706829 0.00006
NM_001142800.2(EYS):c.1950G>A (p.Ala650=) rs565864295 0.00006
NM_001142800.2(EYS):c.2738+13T>C rs886061682 0.00006
NM_001142800.2(EYS):c.2890G>A (p.Glu964Lys) rs886061681 0.00006
NM_001142800.2(EYS):c.5140A>C (p.Thr1714Pro) rs201916371 0.00006
NM_001142800.2(EYS):c.522C>T (p.Cys174=) rs373343831 0.00005
NM_001142800.2(EYS):c.6961A>C (p.Ile2321Leu) rs149823162 0.00005
NM_001142800.2(EYS):c.1293A>T (p.Arg431Ser) rs371607669 0.00004
NM_001142800.2(EYS):c.2222C>T (p.Ala741Val) rs1009558644 0.00004
NM_001142800.2(EYS):c.2546G>A (p.Arg849His) rs775080539 0.00004
NM_001142800.2(EYS):c.7411+11C>T rs886061668 0.00004
NM_001142800.2(EYS):c.77G>A (p.Arg26Gln) rs528733427 0.00004
NM_001142800.2(EYS):c.2857A>G (p.Asn953Asp) rs1326644818 0.00003
NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly) rs368856942 0.00003
NM_001142800.2(EYS):c.6010G>A (p.Gly2004Arg) rs535282640 0.00003
NM_001142800.2(EYS):c.632G>T (p.Cys211Phe) rs772707303 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.6822C>A (p.Ser2274=) rs1055095941 0.00003
NM_001142800.2(EYS):c.6912G>A (p.Gly2304=) rs745961740 0.00003
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser) rs145184183 0.00003
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752 0.00003
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652 0.00003
NM_001142800.2(EYS):c.1490T>C (p.Ile497Thr) rs1417899816 0.00002
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys) rs765763663 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.5484A>C (p.Lys1828Asn) rs996239133 0.00002
NM_001142800.2(EYS):c.5903G>A (p.Gly1968Glu) rs754069174 0.00002
NM_001142800.2(EYS):c.7898+12G>A rs557020239 0.00002
NM_001142800.2(EYS):c.-277C>G rs1379087184 0.00001
NM_001142800.2(EYS):c.-495T>C rs886061688 0.00001
NM_001142800.2(EYS):c.1005G>T (p.Glu335Asp) rs80095433 0.00001
NM_001142800.2(EYS):c.1811A>G (p.Asn604Ser) rs1274107268 0.00001
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu) rs548565748 0.00001
NM_001142800.2(EYS):c.2287T>C (p.Trp763Arg) rs886061684 0.00001
NM_001142800.2(EYS):c.2641+8C>A rs886061683 0.00001
NM_001142800.2(EYS):c.3972C>T (p.Leu1324=) rs202130794 0.00001
NM_001142800.2(EYS):c.4052T>G (p.Leu1351Arg) rs759027016 0.00001
NM_001142800.2(EYS):c.4099T>C (p.Ser1367Pro) rs1285964857 0.00001
NM_001142800.2(EYS):c.4440A>G (p.Arg1480=) rs886061675 0.00001
NM_001142800.2(EYS):c.487C>T (p.Leu163Phe) rs144074328 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001142800.2(EYS):c.5618T>G (p.Leu1873Arg) rs750613634 0.00001
NM_001142800.2(EYS):c.5644+7T>G rs539437238 0.00001
NM_001142800.2(EYS):c.5755C>T (p.Leu1919Phe) rs1275377315 0.00001
NM_001142800.2(EYS):c.583A>C (p.Ser195Arg) rs753945993 0.00001
NM_001142800.2(EYS):c.592T>A (p.Tyr198Asn) rs886061686 0.00001
NM_001142800.2(EYS):c.5935T>C (p.Leu1979=) rs962496239 0.00001
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881 0.00001
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp) rs886061672 0.00001
NM_001142800.2(EYS):c.6725+9T>C rs886061671 0.00001
NM_001142800.2(EYS):c.7133A>G (p.Asn2378Ser) rs1477495174 0.00001
NM_001142800.2(EYS):c.7261A>C (p.Thr2421Pro) rs886061669 0.00001
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825 0.00001
NM_001142800.2(EYS):c.812G>A (p.Ser271Asn) rs1390616909 0.00001
NM_001142800.2(EYS):c.8233+8T>G rs886061666 0.00001
NM_001142800.2(EYS):c.-333G>T rs1038300996
NM_001142800.2(EYS):c.-350G>A rs886061687
NM_001142800.2(EYS):c.-407C>G rs137924872
NM_001142800.2(EYS):c.-82T>C rs1766226162
NM_001142800.2(EYS):c.1232A>G (p.His411Arg) rs886061685
NM_001142800.2(EYS):c.1460-5dup rs771064426
NM_001142800.2(EYS):c.1497C>T (p.Ala499=) rs1300237940
NM_001142800.2(EYS):c.1767-3C>G rs1768658375
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+15del rs35045551
NM_001142800.2(EYS):c.2023+15dup rs35045551
NM_001142800.2(EYS):c.2077G>A (p.Gly693Arg) rs1258209665
NM_001142800.2(EYS):c.2483C>G (p.Thr828Ser) rs1768037062
NM_001142800.2(EYS):c.2641+13A>G rs1768029318
NM_001142800.2(EYS):c.2837T>C (p.Leu946Pro) rs1767685290
NM_001142800.2(EYS):c.2975G>T (p.Cys992Phe) rs566917467
NM_001142800.2(EYS):c.2992+9A>G rs886061680
NM_001142800.2(EYS):c.3265A>G (p.Met1089Val) rs1764663420
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.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) rs190009374
NM_001142800.2(EYS):c.3855G>T (p.Met1285Ile) rs886061677
NM_001142800.2(EYS):c.3905A>G (p.His1302Arg) rs886061676
NM_001142800.2(EYS):c.3949A>G (p.Thr1317Ala) rs1766425037
NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser) rs747921119
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.536G>A (p.Ser179Asn) rs1766186895
NM_001142800.2(EYS):c.5409A>G (p.Ser1803=) rs886061673
NM_001142800.2(EYS):c.5436A>C (p.Val1812=) rs1376017497
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe) rs542339299
NM_001142800.2(EYS):c.5728G>A (p.Glu1910Lys) rs867380219
NM_001142800.2(EYS):c.5866T>G (p.Phe1956Val) rs1269786039
NM_001142800.2(EYS):c.6079-24TC[10] rs35395170
NM_001142800.2(EYS):c.6112A>G (p.Ile2038Val) rs553772732
NM_001142800.2(EYS):c.6899G>T (p.Gly2300Val) rs531588707
NM_001142800.2(EYS):c.6934C>T (p.Leu2312Phe) rs564315274
NM_001142800.2(EYS):c.7047C>A (p.Thr2349=) rs1767253468
NM_001142800.2(EYS):c.7202G>C (p.Gly2401Ala) rs886061670
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.7620A>C (p.Arg2540Ser) rs886061667
NM_001142800.2(EYS):c.7737T>G (p.Thr2579=) rs191846522
NM_001142800.2(EYS):c.7915G>A (p.Gly2639Arg) rs778077385
NM_001142800.2(EYS):c.8211A>C (p.Ala2737=) rs1011193191
NM_001142800.2(EYS):c.847G>A (p.Asp283Asn) rs1766003671

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