ClinVar Miner

Variants in gene EYS with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
4278 310 0 150 82 0 27 232

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 86 13 0 0
likely pathogenic 86 0 22 2 0
uncertain significance 13 22 0 76 16
likely benign 0 2 76 0 64
benign 0 0 16 64 0

All variants with conflicting interpretations #

Total variants: 232
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35062
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795 0.16264
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
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.4352T>C (p.Ile1451Thr) rs62415828 0.10103
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.10092
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) rs12663622 0.10085
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.7666A>T (p.Ser2556Cys) rs66462731 0.08861
NM_001142800.2(EYS):c.7723+64T>A rs72886371 0.08145
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.2739G>A (p.Arg913=) rs77020971 0.02117
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595 0.01917
NM_001142800.2(EYS):c.-459C>T rs144371265 0.01208
NM_001142800.2(EYS):c.6452A>G (p.Asn2151Ser) rs141603172 0.01109
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.4093A>G (p.Lys1365Glu) rs16895519 0.00905
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.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.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_001142800.2(EYS):c.6725+10G>A rs140506043 0.00325
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110 0.00293
NM_001142800.2(EYS):c.2613C>T (p.Asp871=) rs192059823 0.00276
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) rs139822086 0.00273
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210 0.00223
NM_001142800.2(EYS):c.788A>G (p.His263Arg) rs139517572 0.00202
NM_001142800.2(EYS):c.-337T>A rs145321084 0.00201
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522 0.00170
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 0.00145
NM_001142800.2(EYS):c.1184+14T>C rs182780299 0.00140
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359 0.00140
NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly) rs368458853 0.00133
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153 0.00128
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00120
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser) rs186499459 0.00110
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn) rs145274061 0.00108
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) rs376807770 0.00099
NM_001142800.2(EYS):c.6394C>T (p.Leu2132=) rs149332790 0.00099
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.3489T>A (p.Asn1163Lys) rs150951106 0.00076
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser) rs145102275 0.00072
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00068
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00062
NM_001142800.2(EYS):c.1599+13T>C rs182876572 0.00058
NM_001142800.2(EYS):c.6828C>T (p.Ala2276=) rs373606872 0.00051
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854 0.00046
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574 0.00043
NM_001142800.2(EYS):c.2598C>T (p.Cys866=) rs183814213 0.00040
NM_001142800.2(EYS):c.2553C>T (p.Asn851=) rs771641817 0.00037
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001142800.2(EYS):c.2259+20T>C rs187199454 0.00034
NM_001142800.2(EYS):c.4121G>A (p.Arg1374Gln) rs142187896 0.00034
NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val) rs183144150 0.00034
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr) rs76754818 0.00030
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=) rs747911999 0.00029
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881 0.00029
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00023
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile) rs561830314 0.00021
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=) rs774188028 0.00021
NM_001142800.2(EYS):c.6732A>G (p.Thr2244=) rs899618893 0.00016
NM_001142800.2(EYS):c.453T>A (p.Val151=) rs373183802 0.00015
NM_001142800.2(EYS):c.5025T>C (p.Ser1675=) rs995130689 0.00015
NM_001142800.2(EYS):c.5104T>C (p.Leu1702=) rs564151798 0.00012
NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr) rs138255012 0.00010
NM_001142800.2(EYS):c.7609G>A (p.Ala2537Thr) rs189406424 0.00010
NM_001142800.2(EYS):c.1600-10G>A rs111746102 0.00009
NM_001142800.2(EYS):c.2259C>T (p.Leu753=) rs781359405 0.00009
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=) rs775877185 0.00009
NM_001142800.2(EYS):c.7608C>T (p.Ile2536=) rs562496683 0.00009
NM_001142800.2(EYS):c.2953_2961del (p.Thr985_Gly987del) rs756068592 0.00008
NM_001142800.2(EYS):c.4392G>T (p.Gly1464=) rs745673114 0.00008
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001142800.2(EYS):c.8233+9G>A rs779154270 0.00007
NM_001142800.2(EYS):c.-209C>T rs1004023794 0.00006
NM_001142800.2(EYS):c.1461A>T (p.Gly487=) rs376870255 0.00006
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455 0.00006
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
NM_001142800.2(EYS):c.33G>C (p.Leu11=) rs777361054 0.00005
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln) rs749038401 0.00005
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735 0.00005
NM_001142800.2(EYS):c.6571+5G>A rs991580368 0.00005
NM_001142800.2(EYS):c.6726-12T>C rs545960584 0.00005
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter) rs184722374 0.00005
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070 0.00005
NM_001142800.2(EYS):c.904C>T (p.Leu302Phe) rs202064483 0.00005
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) rs527236068 0.00004
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro) rs1311193836 0.00004
NM_001142800.2(EYS):c.1470C>T (p.Gly490=) rs778161042 0.00003
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys) rs765763663 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001142800.2(EYS):c.35T>C (p.Met12Thr) rs755947942 0.00003
NM_001142800.2(EYS):c.5645-8C>T rs886044616 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.6726-7C>T rs886782734 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser) rs145184183 0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe) rs374714909 0.00003
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752 0.00003
NM_001142800.2(EYS):c.8163A>G (p.Gln2721=) rs370845590 0.00003
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652 0.00003
NM_001142800.2(EYS):c.-351C>T rs761045622 0.00002
NM_001142800.2(EYS):c.-448+5G>A rs1175129177 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_001142800.2(EYS):c.78_79dup (p.Gln27fs) rs1352380841 0.00002
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu) rs919157306 0.00002
NM_001142800.2(EYS):c.1185-6T>G rs565046666 0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744 0.00001
NM_001142800.2(EYS):c.1314A>G (p.Pro438=) rs375043207 0.00001
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter) rs1177052380 0.00001
NM_001142800.2(EYS):c.2511C>T (p.Cys837=) rs999155902 0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349 0.00001
NM_001142800.2(EYS):c.3081C>T (p.Thr1027=) rs1554207086 0.00001
NM_001142800.2(EYS):c.3164+8T>C rs1385606496 0.00001
NM_001142800.2(EYS):c.3420G>A (p.Gly1140=) rs1325335839 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.4103dup (p.Ser1369fs) rs1205803331 0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter) rs1305702728 0.00001
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter) rs909730457 0.00001
NM_001142800.2(EYS):c.5262G>A (p.Pro1754=) rs779784002 0.00001
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=) rs1042931370 0.00001
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=) rs373872866 0.00001
NM_001142800.2(EYS):c.5505A>C (p.Ser1835=) rs1172059380 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 0.00001
NM_001142800.2(EYS):c.6079-3_6079-2del rs1491200209 0.00001
NM_001142800.2(EYS):c.6191+1G>A rs1048032321 0.00001
NM_001142800.2(EYS):c.6192-1G>T rs570020451 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr) rs1562190751 0.00001
NM_001142800.2(EYS):c.6571+1G>A rs1193854376 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.7122T>C (p.Ser2374=) rs890076073 0.00001
NM_001142800.2(EYS):c.7170C>T (p.Ser2390=) rs201364943 0.00001
NM_001142800.2(EYS):c.7558T>C (p.Phe2520Leu) rs527486914 0.00001
NM_001142800.2(EYS):c.7578+1G>A rs1228475082 0.00001
NM_001142800.2(EYS):c.7803T>C (p.Asn2601=) rs1342639553 0.00001
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter) rs1197863938 0.00001
NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter) rs1299355731 0.00001
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro) rs1250317776 0.00001
NM_001142800.1(EYS):c.1057del
NM_001142800.2(EYS):c.-350G>A rs886061687
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter) rs749410700
NM_001142800.2(EYS):c.1056+3A>C rs747923761
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1328dup (p.Asn443fs) rs1582176424
NM_001142800.2(EYS):c.1442G>A (p.Trp481Ter) rs2533202515
NM_001142800.2(EYS):c.1460-5del rs771064426
NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter) rs774464019
NM_001142800.2(EYS):c.151T>C (p.Leu51=) rs757997501
NM_001142800.2(EYS):c.1599+7T>C rs755565799
NM_001142800.2(EYS):c.1637_1640del (p.Asp546fs) rs2150313758
NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter) rs1769936722
NM_001142800.2(EYS):c.1698T>C (p.Asn566=) rs1156347961
NM_001142800.2(EYS):c.179del (p.Leu60fs) rs786205652
NM_001142800.2(EYS):c.1961dup (p.Asn654fs) rs749103801
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2023+5G>T rs1287889008
NM_001142800.2(EYS):c.2024-15dup rs202085379
NM_001142800.2(EYS):c.2486del (p.Ile829fs) rs2150076869
NM_001142800.2(EYS):c.2641+1G>A rs1768029728
NM_001142800.2(EYS):c.2992+1G>A rs2533321017
NM_001142800.2(EYS):c.3178_3179del (p.Leu1059_Ile1060insTer) rs1764904701
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter) rs2149856835
NM_001142800.2(EYS):c.3569-6G>T rs940919017
NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter) rs1239806410
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.4011_4012del (p.His1337fs) rs2149832523
NM_001142800.2(EYS):c.4321C>T (p.Gln1441Ter) rs1766410692
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4557del (p.Ala1520fs) rs768092887
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.5487dup (p.Glu1830fs) rs2533149036
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe) rs542339299
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs) rs1455826633
NM_001142800.2(EYS):c.5868del (p.Phe1956fs)
NM_001142800.2(EYS):c.5958_5961del (p.Thr1987fs) rs1561965266
NM_001142800.2(EYS):c.6079-24TC[8] rs35395170
NM_001142800.2(EYS):c.6079-2A>G rs1769479905
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.6191+2T>C rs1769469813
NM_001142800.2(EYS):c.6192-1G>A rs570020451
NM_001142800.2(EYS):c.6424+2T>C rs1236537482
NM_001142800.2(EYS):c.6444A>G (p.Pro2148=) rs556671009
NM_001142800.2(EYS):c.6572-8del rs1370853057
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs) rs2149802267
NM_001142800.2(EYS):c.7055+1G>A rs1582079626
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142800.2(EYS):c.7228_7228+1delinsTA rs1772614934
NM_001142800.2(EYS):c.7260C>T (p.Gly2420=) rs1770908773
NM_001142800.2(EYS):c.7328A>C (p.Glu2443Ala) rs2533574075
NM_001142800.2(EYS):c.7331T>A (p.Phe2444Tyr) rs2533574070
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs) rs1770904723
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter) rs902462590
NM_001142800.2(EYS):c.7579-11dup rs1044534941
NM_001142800.2(EYS):c.7723+1G>A rs1770412895
NM_001142800.2(EYS):c.7798_7802del (p.Pro2600fs) rs1770112191
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8150dup (p.Thr2718fs) rs1251637752
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs) rs764229134
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857
NM_001142800.2(EYS):c.984del (p.Asn328fs) rs1766679809

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