ClinVar Miner

List of variants in gene EYS studied for not specified

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Gene type:
ClinVar version:
Total variants: 92
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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.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.2733T>C (p.Asn911=) rs75634595 0.01917
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.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.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110 0.00293
NM_001142800.2(EYS):c.988G>A (p.Glu330Lys) rs144803840 0.00217
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.7737T>C (p.Thr2579=) rs191846522 0.00175
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_001142800.2(EYS):c.1899A>G (p.Gln633=) rs373197894 0.00153
NM_001142800.2(EYS):c.1184+14T>C rs182780299 0.00132
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518 0.00083
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_001142800.2(EYS):c.1599+13T>C rs182876572 0.00058
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_001142800.2(EYS):c.3568+5T>C rs539477235 0.00034
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_001142800.2(EYS):c.5038A>G (p.Asn1680Asp) rs540546920 0.00013
NM_001142800.2(EYS):c.7608C>T (p.Ile2536=) rs562496683 0.00009
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434 0.00008
NM_001142800.2(EYS):c.1600-10G>A rs111746102 0.00008
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.35T>C (p.Met12Thr) rs755947942 0.00006
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln) rs749038401 0.00005
NM_001142800.2(EYS):c.904C>T (p.Leu302Phe) rs202064483 0.00005
NM_001142800.2(EYS):c.3164+7A>T rs963551759 0.00004
NM_001142800.2(EYS):c.3226T>C (p.Cys1076Arg) rs780935714 0.00004
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu) rs766153322 0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys) rs765763663 0.00002
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu) rs548565748 0.00001
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp) rs762212630 0.00001
NM_001142800.2(EYS):c.2992+12T>A rs1064794365 0.00001
NM_001142800.2(EYS):c.3443G>A (p.Arg1148Lys) rs1334016191 0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 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.7775G>A (p.Gly2592Glu) rs1471859071 0.00001
NM_001142800.2(EYS):c.939T>G (p.Ser313Arg) rs774342993 0.00001
GRCh37/hg19 6q12(chr6:65518898-65930927)
GRCh37/hg19 6q12(chr6:65564377-65671149)
GRCh37/hg19 6q12(chr6:65807262-66064094)
GRCh37/hg19 6q12(chr6:66302699-66360268)
NC_000006.11:g.(65707597_65767506)_(65767621_66005755)dup
NC_000006.11:g.(66063511_66094278)_(66205887_66349670)dup
NC_000006.11:g.(66115261_66200486)_(66200601_66204555)dup
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val) rs540611114
NM_001142800.2(EYS):c.2024-15dup rs202085379
NM_001142800.2(EYS):c.2803G>A (p.Glu935Lys) rs1403474828
NM_001142800.2(EYS):c.3131A>G (p.Asn1044Ser)
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.3877+18_3877+22del rs139235690
NM_001142800.2(EYS):c.400C>T (p.His134Tyr)
NM_001142800.2(EYS):c.4606C>G (p.Gln1536Glu) rs557152369
NM_001142800.2(EYS):c.4963T>A (p.Leu1655Met)
NM_001142800.2(EYS):c.6079-24TC[10] rs35395170
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142800.2(EYS):c.7624G>T (p.Val2542Phe) rs2149670380
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) rs527236064

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