ClinVar Miner

List of variants in gene EYS reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735 0.00005
NM_001142800.2(EYS):c.3878-2A>G rs752930400 0.00004
NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly) rs368856942 0.00003
NM_001142800.2(EYS):c.632G>T (p.Cys211Phe) rs772707303 0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001142800.2(EYS):c.863-2A>C rs761229979 0.00003
NM_001142800.2(EYS):c.1766+1G>T rs776204925 0.00002
NM_001142800.2(EYS):c.6192-1G>T rs570020451 0.00002
NM_001142800.2(EYS):c.1056+1G>A rs1195522061 0.00001
NM_001142800.2(EYS):c.1057-1G>A rs776564041 0.00001
NM_001142800.2(EYS):c.3165-1G>A rs1349089552 0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 0.00001
NM_001142800.2(EYS):c.6571+1G>A rs1193854376 0.00001
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro) rs1250317776 0.00001
NM_001142800.2(EYS):c.862+1G>T rs926930860 0.00001
NC_000006.11:g.(?_64472344)_(64472536_?)dup
NC_000006.11:g.(?_64574059)_(65655827_?)dup
NC_000006.11:g.(?_64574069)_(65016985_?)dup
NC_000006.11:g.(?_64694266)_(64694506_?)dup
NC_000006.11:g.(?_64694266)_(65149255_?)dup
NC_000006.11:g.(?_64776221)_(64791905_?)dup
NC_000006.11:g.(?_64940465)_(65622656_?)dup
NC_000006.11:g.(?_64940475)_(65098743_?)dup
NC_000006.11:g.(?_64940475)_(65336148_?)dup
NC_000006.11:g.(?_65098573)_(65098743_?)dup
NC_000006.11:g.(?_65098573)_(65149255_?)dup
NC_000006.11:g.(?_65098583)_(65149245_?)dup
NC_000006.11:g.(?_65327291)_(65336158_?)dup
NC_000006.11:g.(?_65336004)_(65336148_?)dup
NC_000006.11:g.(?_65523251)_(65532735_?)dup
NC_000006.11:g.(?_65523251)_(65622656_?)del
NC_000006.11:g.(?_65523251)_(65707616_?)dup
NC_000006.11:g.(?_65523280)_(65525433_?)del
NC_000006.11:g.(?_65611996)_(65655817_?)dup
NC_000006.11:g.(?_65622367)_(65655817_?)dup
NC_000006.11:g.(?_65655666)_(65767640_?)dup
NC_000006.11:g.(?_65707465)_(65767630_?)dup
NC_000006.11:g.(?_66005736)_(66094413_?)dup
NC_000006.11:g.(?_66005746)_(66063520_?)dup
NC_000006.11:g.(?_66042207)_(66045049_?)dup
NC_000006.11:g.(?_66094269)_(66094403_?)dup
NC_000006.11:g.(?_66112351)_(66115280_?)dup
NC_000006.11:g.(?_66112361)_(66115270_?)dup
NC_000006.11:g.(?_66200467)_(66205886_?)dup
NC_000006.12:g.(?_64230582)_(64230834_?)dup
NC_000006.12:g.(?_64813368)_(64822832_?)dup
NC_000006.12:g.(?_64813368)_(65057737_?)dup
NC_000006.12:g.(?_64997572)_(64997713_?)dup
NC_000006.12:g.(?_65295853)_(65296129_?)dup
NC_000006.12:g.(?_65332314)_(65353627_?)dup
NC_000006.12:g.(?_65384386)_(65405367_?)dup
NM_001142800.2(EYS):c.1056+2T>C rs2150365452
NM_001142800.2(EYS):c.1057-2del
NM_001142800.2(EYS):c.1184+1G>A rs2150363733
NM_001142800.2(EYS):c.1184+2T>C
NM_001142800.2(EYS):c.1185-6T>G rs565046666
NM_001142800.2(EYS):c.1299+1G>T rs199830721
NM_001142800.2(EYS):c.1299+2T>A rs2150351826
NM_001142800.2(EYS):c.1300-1G>A
NM_001142800.2(EYS):c.1300-3_1300-2delinsTT rs2150327364
NM_001142800.2(EYS):c.1460-1G>A
NM_001142800.2(EYS):c.1599+1G>T rs2150319815
NM_001142800.2(EYS):c.1599+2T>A
NM_001142800.2(EYS):c.1599+2T>G
NM_001142800.2(EYS):c.1708_1766+12del
NM_001142800.2(EYS):c.1766+1G>A
NM_001142800.2(EYS):c.2021_2023+1dup rs2150286198
NM_001142800.2(EYS):c.2023+5G>T rs1287889008
NM_001142800.2(EYS):c.2024-1G>C
NM_001142800.2(EYS):c.2137+2T>C rs1483428079
NM_001142800.2(EYS):c.2260-1G>T
NM_001142800.2(EYS):c.2260-1_2263delinsCAC
NM_001142800.2(EYS):c.2381+1G>A rs1769267226
NM_001142800.2(EYS):c.2738+1G>A rs1767696253
NM_001142800.2(EYS):c.2738+1G>T rs1767696253
NM_001142800.2(EYS):c.2739-1G>A rs943468139
NM_001142800.2(EYS):c.2739-1G>T rs943468139
NM_001142800.2(EYS):c.2847-1G>T
NM_001142800.2(EYS):c.2993-1G>A
NM_001142800.2(EYS):c.3164+2T>C
NM_001142800.2(EYS):c.3165-2A>G rs2150022025
NM_001142800.2(EYS):c.3568+1G>A rs1767600988
NM_001142800.2(EYS):c.3568+1G>C
NM_001142800.2(EYS):c.3684+1G>A
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.5645-1G>A
NM_001142800.2(EYS):c.5835+1G>T rs1774851704
NM_001142800.2(EYS):c.5836-1G>A rs2150463984
NM_001142800.2(EYS):c.5836-1G>C rs2150463984
NM_001142800.2(EYS):c.5836-2del rs2150463985
NM_001142800.2(EYS):c.5927+1G>A
NM_001142800.2(EYS):c.6079-2A>G
NM_001142800.2(EYS):c.6192-1G>A
NM_001142800.2(EYS):c.6415T>C (p.Cys2139Arg) rs1378663182
NM_001142800.2(EYS):c.6424+1G>A
NM_001142800.2(EYS):c.6424+2T>C
NM_001142800.2(EYS):c.6571+6T>C rs1582241382
NM_001142800.2(EYS):c.6572-2A>C rs1771378101
NM_001142800.2(EYS):c.6834+2T>C
NM_001142800.2(EYS):c.7055+1G>A rs1582079626
NM_001142800.2(EYS):c.7055+2T>C
NM_001142800.2(EYS):c.7056-1G>C rs1772620934
NM_001142800.2(EYS):c.7056-2A>C rs1772621012
NM_001142800.2(EYS):c.7056-2A>G rs1772621012
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142800.2(EYS):c.7228_7228+1delinsTA rs1772614934
NM_001142800.2(EYS):c.7229-1G>A rs1554171033
NM_001142800.2(EYS):c.7229-1G>T rs1554171033
NM_001142800.2(EYS):c.7412-1G>A rs1167742176
NM_001142800.2(EYS):c.7412-2A>G rs2149670951
NM_001142800.2(EYS):c.748+1G>A rs1766169568
NM_001142800.2(EYS):c.749-1G>A rs368159852
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.749-2A>G rs1766011028
NM_001142800.2(EYS):c.7579-1G>T
NM_001142800.2(EYS):c.7724-2A>G rs1770114606
NM_001142800.2(EYS):c.7898+1G>A rs1206861190
NM_001142800.2(EYS):c.8072-1G>T
NM_001142800.2(EYS):c.8072-2A>G
NM_001142800.2(EYS):c.862+1G>A
NM_001142800.2(EYS):c.862+2T>C
NM_001142800.2(EYS):c.863-16_872del

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