ClinVar Miner

List of variants in gene EYS reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 254
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.1599+96A>C rs1502963 0.99413
NM_001142800.2(EYS):c.1600-38G>A rs1502965 0.98305
NM_001142800.2(EYS):c.1600-79A>G rs1502964 0.98305
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.77065
NM_001142800.2(EYS):c.6191+132G>A rs9362694 0.75800
NM_001142800.2(EYS):c.5928-35T>C rs587278 0.72606
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.2641+198A>C rs10046141 0.67344
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.1767-136T>G rs9342465 0.49843
NM_001142800.2(EYS):c.2260-76G>A rs9453115 0.39093
NM_001142800.2(EYS):c.6835-124A>G rs1482456 0.37737
NM_001142800.2(EYS):c.7056-146_7056-145insGA rs10645485 0.36862
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_001142800.2(EYS):c.-447-123A>C rs17779372 0.35107
NM_001142800.2(EYS):c.6835-64C>T rs1482457 0.35084
NM_001142800.2(EYS):c.6834+61T>G rs66502009 0.29500
NM_001142800.2(EYS):c.8071+84T>G rs4710257 0.28040
NM_001142800.2(EYS):c.6078+68A>G rs36133910 0.27370
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.2847-221C>T rs59191409 0.14892
NM_001142800.2(EYS):c.2847-157A>G rs58449017 0.14846
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.3877+112T>C rs16895524 0.10701
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe) rs57312007 0.10595
NM_001142800.2(EYS):c.3568+99C>A rs62415853 0.10485
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=) rs12662610 0.10143
NM_001142800.2(EYS):c.3877+133T>A rs75420781 0.09880
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.3878-92C>G rs12663927 0.09857
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=) rs62415825 0.09856
NM_001142800.2(EYS):c.5644+131T>G rs17217966 0.09855
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.3685-179A>G rs17290119 0.09837
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.748+225G>A rs35009856 0.09401
NM_001142800.2(EYS):c.862+87T>C rs4710522 0.09325
NM_001142800.2(EYS):c.-198+83T>A rs13217899 0.09211
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) rs66462731 0.08861
NM_001142800.2(EYS):c.2846+192A>G rs57706332 0.08761
NM_001142800.2(EYS):c.2846+229G>A rs11754649 0.08752
NM_001142800.2(EYS):c.7723+64T>A rs72886371 0.08145
NM_001142800.2(EYS):c.2137+239A>G rs10455567 0.07589
NM_001142800.2(EYS):c.2137+114C>T rs10455568 0.07557
NM_001142800.2(EYS):c.1766+2642A>C rs12207746 0.07122
NM_001142800.2(EYS):c.1766+106T>C rs61109372 0.06367
NM_001142800.2(EYS):c.2382-200G>T rs41516844 0.04854
NM_001142800.2(EYS):c.2382-133T>C rs74484316 0.04848
NM_001142800.2(EYS):c.3244-160G>A rs140283964 0.04452
NM_001142800.2(EYS):c.1766+61A>G rs76148513 0.04429
NM_001142800.2(EYS):c.-197-86T>C rs41273633 0.04258
NM_001142800.2(EYS):c.5836-41G>A rs73767811 0.04182
NM_001142800.2(EYS):c.1767-74G>A rs77126533 0.03956
NM_001142800.2(EYS):c.7055+31C>T rs59755848 0.03511
NM_001142800.2(EYS):c.6079-82C>A rs56884225 0.03374
NM_001142800.2(EYS):c.6191+210A>T rs79945794 0.03323
NM_001142800.2(EYS):c.1766+2778T>G rs79262713 0.02874
NM_001142800.2(EYS):c.1600-176A>G rs73741294 0.02873
NM_001142800.2(EYS):c.3444-86G>A rs6939915 0.02727
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.2260-234C>G rs73767192 0.02437
NM_001142800.2(EYS):c.2739G>A (p.Arg913=) rs77020971 0.02117
NM_001142800.2(EYS):c.2642-136G>A rs79920226 0.02057
NM_001142800.2(EYS):c.1599+180C>T rs78419333 0.01946
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.-448+133A>C rs78321112 0.01671
NM_001142800.2(EYS):c.748+52T>C rs141159211 0.01611
NM_001142800.2(EYS):c.5927+44A>G rs145170471 0.01608
NM_001142800.2(EYS):c.1459+20T>A rs115475187 0.01473
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.3843A>C (p.Ile1281=) rs199667034 0.01016
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519 0.00905
NM_001142800.2(EYS):c.6079-23C>A rs149568304 0.00892
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.7006G>A (p.Val2336Ile) rs74848648 0.00397
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_001142800.2(EYS):c.7578+18C>T rs147210136 0.00376
NM_001142800.2(EYS):c.6725+10G>A rs140506043 0.00353
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.2500G>A (p.Val834Ile) rs112464110 0.00293
NM_001142800.2(EYS):c.7697G>A (p.Gly2566Glu) rs115058877 0.00293
NM_001142800.2(EYS):c.2613C>T (p.Asp871=) rs192059823 0.00284
NM_001142800.2(EYS):c.2641+35A>G rs117137733 0.00237
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210 0.00223
NM_001142800.2(EYS):c.988G>A (p.Glu330Lys) rs144803840 0.00217
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.-414G>A rs181146743 0.00187
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522 0.00175
NM_001142800.2(EYS):c.1899A>G (p.Gln633=) rs373197894 0.00153
NM_001142800.2(EYS):c.7107G>A (p.Leu2369=) rs187604073 0.00141
NM_001142800.2(EYS):c.1184+14T>C rs182780299 0.00132
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser) rs186499459 0.00121
NM_001142800.2(EYS):c.3877+17A>G rs749379421 0.00115
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) rs376807770 0.00108
NM_001142800.2(EYS):c.6394C>T (p.Leu2132=) rs149332790 0.00103
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys) rs150951106 0.00076
NM_001142800.2(EYS):c.1460-20T>G rs57139139 0.00069
NM_001142800.2(EYS):c.7056-15T>A rs139056492 0.00067
NM_001142800.2(EYS):c.3444-15del rs546966286 0.00062
NM_001142800.2(EYS):c.-521C>T rs769167992 0.00057
NM_001142800.2(EYS):c.-207A>G rs370140172 0.00051
NM_001142800.2(EYS):c.-200G>A rs368932132 0.00035
NM_001142800.2(EYS):c.2259+20T>C rs187199454 0.00034
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.4991C>T (p.Thr1664Ile) rs561830314 0.00021
NM_001142800.2(EYS):c.6273T>C (p.Thr2091=) rs568000643 0.00020
NM_001142800.2(EYS):c.-78T>A rs190155823 0.00017
NM_001142800.2(EYS):c.7055+20T>C rs1008346163 0.00009
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434 0.00008
NM_001142800.2(EYS):c.2545C>T (p.Arg849Cys) rs369347845 0.00004
NM_001142800.2(EYS):c.2546G>A (p.Arg849His) rs775080539 0.00004
NM_001142800.2(EYS):c.5411T>C (p.Ile1804Thr) rs368097230 0.00004
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652 0.00003
NM_001142800.2(EYS):c.6982G>A (p.Gly2328Arg) rs746217317 0.00002
NM_001142800.2(EYS):c.1766+2777T>C rs1191955188 0.00001
NM_001142800.2(EYS):c.360G>A (p.Thr120=) rs745859722 0.00001
NM_001142800.2(EYS):c.5505A>C (p.Ser1835=) rs1172059380 0.00001
NM_001142800.2(EYS):c.6726-12T>C rs545960584 0.00001
NM_001142800.2(EYS):c.7558T>C (p.Phe2520Leu) rs527486914 0.00001
GRCh37/hg19 6q12(chr6:64658077-64695023)x1
GRCh37/hg19 6q12(chr6:64662711-64668193)x0
GRCh37/hg19 6q12(chr6:64667045-64680963)x0
GRCh37/hg19 6q12(chr6:64667045-64693014)x1
GRCh37/hg19 6q12(chr6:65187445-65227097)x1
GRCh37/hg19 6q12(chr6:65307434-65328120)x1
GRCh37/hg19 6q12(chr6:65347424-65354108)x0
GRCh37/hg19 6q12(chr6:65347533-65365420)x3
GRCh37/hg19 6q12(chr6:65635578-65734358)x1
GRCh37/hg19 6q12(chr6:65711755-65726738)x1
GRCh37/hg19 6q12(chr6:65715716-65836765)x1
GRCh37/hg19 6q12(chr6:65763048-65790983)x1
GRCh37/hg19 6q12(chr6:65786994-65814638)x1
GRCh37/hg19 6q12(chr6:65825391-65918649)x1
GRCh37/hg19 6q12(chr6:65828853-65910600)x1
GRCh37/hg19 6q12(chr6:65903328-65910600)x1
GRCh37/hg19 6q12(chr6:65909976-65910600)x1
GRCh37/hg19 6q12(chr6:66377946-66442496)x3
GRCh37/hg19 6q12(chr6:66391650-66506140)x1
GRCh37/hg19 6q12(chr6:66397288-66405466)x3
GRCh37/hg19 6q12(chr6:66402855-66404622)x3
GRCh37/hg19 6q12(chr6:66402855-66405466)x3
GRCh37/hg19 6q12(chr6:66402855-66414828)x4
GRCh37/hg19 6q12(chr6:66403264-66414828)x3
NM_001142800.2(EYS):c.-407C>G rs137924872
NM_001142800.2(EYS):c.1057-19dup rs753320968
NM_001142800.2(EYS):c.1300-20dup
NM_001142800.2(EYS):c.1459+103C>T rs9453265
NM_001142800.2(EYS):c.1460-19dup
NM_001142800.2(EYS):c.1460-5del rs771064426
NM_001142800.2(EYS):c.1460-5dup rs771064426
NM_001142800.2(EYS):c.1460-6_1460-5del rs771064426
NM_001142800.2(EYS):c.1766+156A>T rs1444355508
NM_001142800.2(EYS):c.1766+2021A>G rs2150312191
NM_001142800.2(EYS):c.1766+2077A>C rs1360320631
NM_001142800.2(EYS):c.1766+2140G>A rs2150312116
NM_001142800.2(EYS):c.1766+2170G>A rs2150312095
NM_001142800.2(EYS):c.1766+2260A>G rs1769840698
NM_001142800.2(EYS):c.1766+2315C>T rs1352867412
NM_001142800.2(EYS):c.1766+2586C>T rs1769830483
NM_001142800.2(EYS):c.1766+2783A>G rs2150311626
NM_001142800.2(EYS):c.1766+2827T>C rs2150311598
NM_001142800.2(EYS):c.1766+3478G>T rs2150311249
NM_001142800.2(EYS):c.1766+4353T>A rs2150310685
NM_001142800.2(EYS):c.1888A>T (p.Ser630Cys)
NM_001142800.2(EYS):c.2023+146del rs34666704
NM_001142800.2(EYS):c.2023+14_2023+15dup rs35045551
NM_001142800.2(EYS):c.2023+15del rs35045551
NM_001142800.2(EYS):c.2023+15dup rs35045551
NM_001142800.2(EYS):c.2023+16_2023+17insT rs1768646194
NM_001142800.2(EYS):c.2024-14_2024-13insTT rs142590049
NM_001142800.2(EYS):c.2024-15del rs202085379
NM_001142800.2(EYS):c.2024-15dup rs202085379
NM_001142800.2(EYS):c.2138-136G>A rs9363312
NM_001142800.2(EYS):c.2259+10C>A rs78511049
NM_001142800.2(EYS):c.2259+164del rs376045129
NM_001142800.2(EYS):c.2382-26C>G rs9445437
NM_001142800.2(EYS):c.2546G>T (p.Arg849Leu)
NM_001142800.2(EYS):c.2739-10del rs1767690191
NM_001142800.2(EYS):c.2739-10dup rs1767690191
NM_001142800.2(EYS):c.2846+17del
NM_001142800.2(EYS):c.2846+53_2846+54insTAAT rs59518422
NM_001142800.2(EYS):c.2847-24C>T rs7743515
NM_001142800.2(EYS):c.3164+8dup rs201012275
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.3443+160T>G rs9345532
NM_001142800.2(EYS):c.3444-7del rs1163024711
NM_001142800.2(EYS):c.3444-7dup rs1163024711
NM_001142800.2(EYS):c.3569-6G>T rs940919017
NM_001142800.2(EYS):c.359C>G (p.Thr120Arg) rs12193967
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.3877+17_3877+18insT rs2149833245
NM_001142800.2(EYS):c.3877+18_3877+22del rs139235690
NM_001142800.2(EYS):c.3877+93_3877+94del rs11331907
NM_001142800.2(EYS):c.3877+94del rs11331907
NM_001142800.2(EYS):c.3878-12dup
NM_001142800.2(EYS):c.4265C>T (p.Thr1422Ile)
NM_001142800.2(EYS):c.5835+155T>C rs3904083
NM_001142800.2(EYS):c.5836-11del
NM_001142800.2(EYS):c.5927+20del
NM_001142800.2(EYS):c.6079-24TC[10] rs35395170
NM_001142800.2(EYS):c.6079-24TC[12] rs35395170
NM_001142800.2(EYS):c.6079-24TC[8] rs35395170
NM_001142800.2(EYS):c.6079-24TC[9] rs35395170
NM_001142800.2(EYS):c.6444A>G (p.Pro2148=) rs556671009
NM_001142800.2(EYS):c.6572-8del
NM_001142800.2(EYS):c.6572-8dup rs1370853057
NM_001142800.2(EYS):c.6835-20del
NM_001142800.2(EYS):c.6984A>G (p.Gly2328=)
NM_001142800.2(EYS):c.7056-11del
NM_001142800.2(EYS):c.7056-11dup rs2149709768
NM_001142800.2(EYS):c.7056-145_7056-144dup rs10638627
NM_001142800.2(EYS):c.7229-6del rs1174597152
NM_001142800.2(EYS):c.7369C>T (p.Leu2457=) rs551500915
NM_001142800.2(EYS):c.7412-20del
NM_001142800.2(EYS):c.749-12del
NM_001142800.2(EYS):c.749-12dup
NM_001142800.2(EYS):c.749-20del rs751379141
NM_001142800.2(EYS):c.749-20dup rs751379141
NM_001142800.2(EYS):c.7579-12del
NM_001142800.2(EYS):c.7579-12dup rs752462530
NM_001142800.2(EYS):c.862+8dup
NM_001142800.2(EYS):c.863-20_863-19dup rs751896006
NM_001142800.2(EYS):c.863-21_863-20dup
NM_001142800.2(EYS):c.863-22_863-21insTTC rs1554192996
NM_001142800.2(EYS):c.863-30_863-28dup rs34154043
NM_001142800.2(EYS):c.863-30_863-29dup rs34154043
NM_001142800.2(EYS):c.863-4del rs199517256
NM_001142800.2(EYS):c.863-4dup rs199517256

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