ClinVar Miner

List of variants in gene EYS reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.1599+96A>C rs1502963 0.99413
NM_001142800.2(EYS):c.1600-79A>G rs1502964 0.98409
NM_001142800.2(EYS):c.1600-38G>A rs1502965 0.98408
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.76831
NM_001142800.2(EYS):c.6191+132G>A rs9362694 0.75464
NM_001142800.2(EYS):c.5928-35T>C rs587278 0.72606
NM_001142800.2(EYS):c.1300-3C>T rs1936439 0.67592
NM_001142800.2(EYS):c.2641+198A>C rs10046141 0.67344
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.66464
NM_001142800.2(EYS):c.1146T>C (p.Asn382=) rs974110 0.52503
NM_001142800.2(EYS):c.1767-136T>G rs9342465 0.51140
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.2260-76G>A rs9453115 0.38355
NM_001142800.2(EYS):c.6835-124A>G rs1482456 0.37545
NM_001142800.2(EYS):c.7056-146_7056-145insGA rs10645485 0.37170
NM_001142800.2(EYS):c.-447-123A>C rs17779372 0.35107
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35062
NM_001142800.2(EYS):c.6835-64C>T rs1482457 0.35000
NM_001142800.2(EYS):c.6834+61T>G rs66502009 0.29880
NM_001142800.2(EYS):c.8071+84T>G rs4710257 0.28040
NM_001142800.2(EYS):c.6078+68A>G rs36133910 0.27570
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 0.19548
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795 0.16264
NM_001142800.2(EYS):c.2847-157A>G rs58449017 0.15434
NM_001142800.2(EYS):c.2847-221C>T rs59191409 0.14892
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_001142800.2(EYS):c.3877+112T>C rs16895524 0.10947
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.3568+99C>A rs62415853 0.10485
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=) rs12662610 0.10365
NM_001142800.2(EYS):c.3877+133T>A rs75420781 0.10121
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.10103
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=) rs12663619 0.10095
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.10092
NM_001142800.2(EYS):c.5644+131T>G rs17217966 0.10092
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) rs12663622 0.10085
NM_001142800.2(EYS):c.3685-179A>G rs17290119 0.10078
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.3787A>G (p.Ile1263Val) rs17404123 0.09852
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827 0.09842
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val) rs16895517 0.09833
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826 0.09832
NM_001142800.2(EYS):c.748+225G>A rs35009856 0.09766
NM_001142800.2(EYS):c.862+87T>C rs4710522 0.09688
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 0.08701
NM_001142800.2(EYS):c.2846+229G>A rs11754649 0.08693
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 0.06017
NM_001142800.2(EYS):c.2382-200G>T rs41516844 0.05037
NM_001142800.2(EYS):c.2382-133T>C rs74484316 0.04848
NM_001142800.2(EYS):c.1766+61A>G rs76148513 0.04597
NM_001142800.2(EYS):c.3244-160G>A rs140283964 0.04452
NM_001142800.2(EYS):c.5836-41G>A rs73767811 0.04182
NM_001142800.2(EYS):c.-197-86T>C rs41273633 0.03980
NM_001142800.2(EYS):c.1767-74G>A rs77126533 0.03689
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 0.03267
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.1766+2778T>G rs79262713 0.02675
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356 0.02473
NM_001142800.2(EYS):c.2157C>T (p.Cys719=) rs9453148 0.02390
NM_001142800.2(EYS):c.2260-234C>G rs73767192 0.02271
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.-448+133A>C rs78321112 0.01671
NM_001142800.2(EYS):c.748+52T>C rs141159211 0.01586
NM_001142800.2(EYS):c.5927+44A>G rs145170471 0.01554
NM_001142800.2(EYS):c.1459+20T>A rs115475187 0.01473
NM_001142800.2(EYS):c.-459C>T rs144371265 0.01208
NM_001142800.2(EYS):c.777G>A (p.Gln259=) rs78079047 0.01086
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 0.00688
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274 0.00587
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=) rs114282214 0.00571
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_001142800.2(EYS):c.7578+18C>T rs147210136 0.00364
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00350
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.2641+35A>G rs117137733 0.00237
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_001142800.2(EYS):c.1599+13T>C rs182876572 0.00058
NM_001142800.2(EYS):c.2259+20T>C rs187199454 0.00034
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile) rs561830314 0.00021
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434 0.00007
NM_001142800.2(EYS):c.6726-12T>C rs545960584 0.00005
NM_001142800.2(EYS):c.1766+2777T>C rs1191955188 0.00001
NM_001142800.2(EYS):c.5505A>C (p.Ser1835=) rs1172059380 0.00001
NM_001142800.2(EYS):c.1459+103C>T rs9453265
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.2023+146del rs34666704
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.2024-15del 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.2846+53_2846+54insTAAT rs59518422
NM_001142800.2(EYS):c.2847-24C>T rs7743515
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.3443+160T>G rs9345532
NM_001142800.2(EYS):c.3569-6G>T rs940919017
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.5835+155T>C rs3904083
NM_001142800.2(EYS):c.6079-24TC[10] rs35395170
NM_001142800.2(EYS):c.7056-145_7056-144dup rs10638627
NM_001142800.2(EYS):c.863-20_863-19dup rs751896006
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

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