ClinVar Miner

List of variants in gene CEP290 reported by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 355
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00028
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120 0.00012
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00008
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00005
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00003
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00003
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly) rs758864226 0.00003
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter) rs375548374 0.00003
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00003
NM_025114.4(CEP290):c.853-2A>G rs2039902653 0.00003
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1623+1G>A rs863225186 0.00002
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter) rs137852833 0.00002
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter) rs1555212271 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.6012-12T>A rs752197734 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025114.4(CEP290):c.102+2T>A rs763226787 0.00001
NM_025114.4(CEP290):c.1190-2A>G rs200818935 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter) rs763559949 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.181-2A>G rs886042359 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.1992del (p.Pro665fs) rs770175184 0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro) rs762633090 0.00001
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter) rs1168542133 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter) rs752144368 0.00001
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter) rs1267970567 0.00001
NM_025114.4(CEP290):c.3185del (p.Leu1062fs) rs863225189 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 0.00001
NM_025114.4(CEP290):c.3309+2T>C rs1007902545 0.00001
NM_025114.4(CEP290):c.3310-1G>A rs369935020 0.00001
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter) rs758878983 0.00001
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter) rs1468942944 0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter) rs1412133967 0.00001
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581 0.00001
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter) rs2036816455 0.00001
NM_025114.4(CEP290):c.4177A>G (p.Ile1393Val) rs2036709987 0.00001
NM_025114.4(CEP290):c.437del (p.Glu146fs) rs1452465499 0.00001
NM_025114.4(CEP290):c.4485A>G (p.Ile1495Met) rs1328019408 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter) rs771864158 0.00001
NM_025114.4(CEP290):c.5163del (p.Thr1722fs) rs1565827171 0.00001
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 0.00001
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247 0.00001
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter) rs767426153 0.00001
NM_025114.4(CEP290):c.6012-2A>G rs555755221 0.00001
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter) rs750073051 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter) rs1375836634 0.00001
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549 0.00001
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter) rs1411950710
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter) rs2138021345
NM_025114.4(CEP290):c.1062del (p.Gln354fs) rs2501328740
NM_025114.4(CEP290):c.1132del (p.Met378fs) rs2501274238
NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter) rs2501272074
NM_025114.4(CEP290):c.1169dup (p.Asn390fs) rs2501271560
NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter) rs2501271113
NM_025114.4(CEP290):c.1189+1G>A rs2039659434
NM_025114.4(CEP290):c.1189+2T>C rs2501269442
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.1225_1226insAAAGA (p.Ile409fs) rs2501098597
NM_025114.4(CEP290):c.1225del (p.Ile409fs) rs1287628446
NM_025114.4(CEP290):c.1247T>G (p.Leu416Ter) rs1269182131
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1258dup (p.Thr420fs) rs868650061
NM_025114.4(CEP290):c.1347dup (p.Asp450fs) rs774490795
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1360-2A>C rs2501054222
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter) rs1437841365
NM_025114.4(CEP290):c.1397_1400del (p.Lys466fs) rs2501049333
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.1439_1450delinsG (p.Glu480fs) rs2501043847
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1453dup (p.Glu485fs) rs2501043274
NM_025114.4(CEP290):c.1471_1475del (p.Leu491fs) rs1340725042
NM_025114.4(CEP290):c.1495G>T (p.Glu499Ter) rs2501038652
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs) rs886043303
NM_025114.4(CEP290):c.1516del (p.Arg506fs) rs2501035965
NM_025114.4(CEP290):c.1588C>T (p.Gln530Ter) rs2500956859
NM_025114.4(CEP290):c.1594del (p.Arg532fs) rs2500956116
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer) rs1346690922
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter) rs1186821575
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter) rs77818876
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1668del (p.Arg557fs) rs2039204524
NM_025114.4(CEP290):c.1669_1711+27del rs2500933789
NM_025114.4(CEP290):c.1681C>T (p.Gln561Ter) rs1475139450
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter) rs1272411609
NM_025114.4(CEP290):c.1750del (p.Ser584fs) rs780954447
NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter) rs867094910
NM_025114.4(CEP290):c.180+1G>T rs758593134
NM_025114.4(CEP290):c.1824+1G>A rs2500865783
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.1835_1838del (p.Leu612fs) rs2500829215
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs) rs766608755
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs) rs1033594764
NM_025114.4(CEP290):c.1909+1G>T rs1006843385
NM_025114.4(CEP290):c.1910-11T>G rs1555220638
NM_025114.4(CEP290):c.1910-1G>A rs2500817276
NM_025114.4(CEP290):c.1914del (p.Glu639fs) rs2500817128
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter) rs2038919221
NM_025114.4(CEP290):c.2052+1G>A rs2038915208
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2112del (p.Val705fs) rs863225183
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs) rs62640580
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter) rs1440259390
NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter) rs1231122388
NM_025114.4(CEP290):c.2176del (p.Ala726fs) rs2500761561
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer) rs2137720951
NM_025114.4(CEP290):c.2217+2T>C rs2038702746
NM_025114.4(CEP290):c.2217+2T>G rs2038702746
NM_025114.4(CEP290):c.2218-2A>G rs2500746572
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs) rs587783010
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_025114.4(CEP290):c.226delinsAA (p.Ala76fs) rs2501802132
NM_025114.4(CEP290):c.2304del (p.Gly768_Ile769insTer) rs2038668800
NM_025114.4(CEP290):c.2355dup (p.His786fs) rs2500737638
NM_025114.4(CEP290):c.2367+1G>A rs2500736926
NM_025114.4(CEP290):c.2389_2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2404_2433delinsAC (p.Glu802fs) rs2500681450
NM_025114.4(CEP290):c.2433del (p.Lys811fs) rs2137663442
NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter) rs758193337
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter) rs2137624440
NM_025114.4(CEP290):c.2506G>T (p.Glu836Ter) rs2038340977
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs) rs1223251937
NM_025114.4(CEP290):c.2510del (p.Ser837fs) rs1345613057
NM_025114.4(CEP290):c.2515_2518del (p.Lys838_Thr839insTer) rs2500631443
NM_025114.4(CEP290):c.2586+1G>A rs2500627365
NM_025114.4(CEP290):c.2587-1G>T rs1247861318
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2632dup (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.270_274del (p.Lys90fs) rs1027368517
NM_025114.4(CEP290):c.272_276del (p.Val91fs) rs2040498071
NM_025114.4(CEP290):c.2794dup (p.Ile932fs) rs2500613493
NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter) rs1180594304
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs) rs2040497202
NM_025114.4(CEP290):c.2933del (p.Asp978fs) rs2500524863
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.297+1G>C rs878853360
NM_025114.4(CEP290):c.2991+1G>A rs2500522460
NM_025114.4(CEP290):c.2992-1G>A rs2037480294
NM_025114.4(CEP290):c.2999del (p.Asn1000fs) rs2500377103
NM_025114.4(CEP290):c.3012del (p.Glu1005fs) rs1555213204
NM_025114.4(CEP290):c.3016C>T (p.Gln1006Ter) rs1201691161
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3187G>T (p.Glu1063Ter) rs1397256061
NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter) rs757210438
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs) rs778407127
NM_025114.4(CEP290):c.3234_3235del (p.Lys1078fs) rs2037228556
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter) rs766095901
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs) rs770474857
NM_025114.4(CEP290):c.3461+1G>C rs766952056
NM_025114.4(CEP290):c.3461+2T>G rs779865400
NM_025114.4(CEP290):c.3462-2A>G rs1223217246
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter) rs2036977924
NM_025114.4(CEP290):c.3574-1G>A rs2500121878
NM_025114.4(CEP290):c.3574-2A>G rs2500121943
NM_025114.4(CEP290):c.3596del (p.Leu1199fs) rs2500120486
NM_025114.4(CEP290):c.3606_3615del (p.Lys1202fs) rs2500119265
NM_025114.4(CEP290):c.3664G>T (p.Glu1222Ter) rs770015278
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3721A>T (p.Lys1241Ter) rs2500113822
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter) rs2500112760
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs) rs2137276301
NM_025114.4(CEP290):c.3750_3753delinsA (p.Tyr1250_Tyr1251delinsTer) rs2500111273
NM_025114.4(CEP290):c.3783del (p.Lys1261fs) rs2036833257
NM_025114.4(CEP290):c.3799del (p.Ile1267fs) rs2500108266
NM_025114.4(CEP290):c.3825_3829del (p.Gly1276fs) rs2500106420
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter) rs2036824785
NM_025114.4(CEP290):c.384_385del (p.Asp128fs) rs1288619268
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_025114.4(CEP290):c.3897_3901del (p.Lys1299fs) rs2500101737
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.4(CEP290):c.3917del (p.Asn1306fs) rs2036817502
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter) rs1285349002
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4033del (p.Ile1345fs) rs771939468
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter) rs1339975972
NM_025114.4(CEP290):c.4081_4084del (p.Leu1361fs) rs2500064528
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs) rs62640582
NM_025114.4(CEP290):c.4225del (p.Gln1409fs) rs2500018615
NM_025114.4(CEP290):c.4348_4356delinsTC (p.Pro1450fs) rs2500010183
NM_025114.4(CEP290):c.4384del (p.Glu1462fs) rs863225182
NM_025114.4(CEP290):c.441+1G>C rs1184012636
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4485del (p.Leu1496fs) rs2499990885
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter) rs746305733
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.4704+1G>T rs1565835538
NM_025114.4(CEP290):c.4737del (p.Asp1580fs) rs1304430926
NM_025114.4(CEP290):c.4763T>G (p.Leu1588Ter) rs760653238
NM_025114.4(CEP290):c.476del (p.Asn159fs) rs1592676397
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.4771del (p.Gln1591fs) rs2499973191
NM_025114.4(CEP290):c.4812+1del rs1318951892
NM_025114.4(CEP290):c.4855dup (p.His1619fs) rs2499960522
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs) rs2036318355
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter) rs868148490
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter) rs1159120623
NM_025114.4(CEP290):c.4918_4927del (p.Leu1640fs) rs2499957970
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter) rs2499957266
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) rs756302731
NM_025114.4(CEP290):c.4978_4987del (p.Leu1660fs) rs2499955654
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs) rs2036306894
NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter) rs2499955544
NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter) rs1219855028
NM_025114.4(CEP290):c.5012+1G>A rs2499954741
NM_025114.4(CEP290):c.5012+2T>G rs1369768287
NM_025114.4(CEP290):c.5029_5030del (p.Glu1677fs) rs2036111540
NM_025114.4(CEP290):c.5046del (p.Lys1682_Val1683insTer) rs2499913444
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter) rs2499911272
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs) rs766259648
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs) rs995093343
NM_025114.4(CEP290):c.5192dup (p.Ser1732fs) rs2499908343
NM_025114.4(CEP290):c.5223_5224del (p.Lys1742fs) rs2499907349
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs) rs775969711
NM_025114.4(CEP290):c.5242del (p.Leu1748fs) rs2499889148
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp) rs748471942
NM_025114.4(CEP290):c.5255_5258del (p.Arg1752fs) rs2499888400
NM_025114.4(CEP290):c.5263del (p.Glu1754_Met1755insTer) rs2499888150
NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter) rs774410421
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter) rs2039993548
NM_025114.4(CEP290):c.5402T>A (p.Leu1801Ter) rs2035898709
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer) rs2499860162
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs) rs757609119
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs) rs749331348
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5506del (p.Ile1836fs) rs2499857186
NM_025114.4(CEP290):c.550_556dup (p.Gln186fs) rs2501504852
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs) rs281865187
NM_025114.4(CEP290):c.5519_5537del (p.Lys1840fs) rs2499855740
NM_025114.4(CEP290):c.5546_5549del (p.Glu1849fs) rs2499855165
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5709+2T>G rs2499838601
NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter) rs2499745769
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs) rs754728136
NM_025114.4(CEP290):c.574_577del (p.Glu192fs) rs2501503340
NM_025114.4(CEP290):c.5750del (p.Lys1917fs) rs2499744612
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5784_5788del (p.Leu1929fs) rs2499742919
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter) rs1592784618
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs) rs2136964385
NM_025114.4(CEP290):c.5794A>T (p.Lys1932Ter) rs2499742387
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs) rs2035399616
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5822del (p.Lys1941fs) rs2499741182
NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter) rs763345078
NM_025114.4(CEP290):c.584T>G (p.Leu195Ter) rs2501502246
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.5855+1G>A rs1476248618
NM_025114.4(CEP290):c.5855+2T>G rs2499739840
NM_025114.4(CEP290):c.5856-1G>T rs2499731886
NM_025114.4(CEP290):c.5953del (p.Glu1985fs) rs2481007195
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter) rs2035358840
NM_025114.4(CEP290):c.5972del (p.Lys1991fs) rs1468269366
NM_025114.4(CEP290):c.6011+2T>G rs2499726960
NM_025114.4(CEP290):c.6138_6139delinsC (p.Ser2047fs) rs2499620795
NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter) rs2499620387
NM_025114.4(CEP290):c.619C>T (p.Gln207Ter) rs2501499274
NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter) rs2499618420
NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter) rs2499617680
NM_025114.4(CEP290):c.6262del (p.Arg2088fs) rs2499617326
NM_025114.4(CEP290):c.626del (p.Ser209fs) rs2039987359
NM_025114.4(CEP290):c.6270+1G>T rs1237799214
NM_025114.4(CEP290):c.6270+2T>C rs2499616926
NM_025114.4(CEP290):c.628A>T (p.Lys210Ter) rs763473957
NM_025114.4(CEP290):c.635dup (p.Asn212fs) rs769091629
NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter) rs1555197766
NM_025114.4(CEP290):c.6397dup (p.Thr2133fs) rs2499571369
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6487dup (p.Met2163fs) rs2136748724
NM_025114.4(CEP290):c.6490del (p.Ala2164fs) rs2499568269
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.6624del (p.Arg2208fs) rs2136725569
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter) rs768065164
NM_025114.4(CEP290):c.673_674del (p.Leu225fs) rs886039805
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter) rs2034232539
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6831del (p.Lys2278fs) rs2499473051
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter) rs2499472817
NM_025114.4(CEP290):c.6869del (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) rs1592726020
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter) rs2033937635
NM_025114.4(CEP290):c.6917_6920del (p.Arg2306fs) rs1177923180
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs) rs1177923180
NM_025114.4(CEP290):c.6927del (p.Val2310fs) rs1441877386
NM_025114.4(CEP290):c.6928dup (p.Val2310fs) rs2499469543
NM_025114.4(CEP290):c.6933del (p.Asn2311fs) rs2499469346
NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter) rs863225187
NM_025114.4(CEP290):c.7003C>T (p.Gln2335Ter) rs1474521702
NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter) rs2499444300
NM_025114.4(CEP290):c.7031_7034+7delinsAT rs2499443322
NM_025114.4(CEP290):c.7035-1G>T rs2499429479
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter) rs878896889
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7130-2del rs2499370043
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7157_7158del (p.Lys2386fs) rs2499368756
NM_025114.4(CEP290):c.715del (p.Glu238_Met239insTer) rs2501475352
NM_025114.4(CEP290):c.7162_7163del (p.Leu2388fs) rs2499368529
NM_025114.4(CEP290):c.7163_7164del (p.Leu2388fs) rs2499368432
NM_025114.4(CEP290):c.7165G>T (p.Glu2389Ter) rs2499368392
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs) rs747239148
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7209+1G>A rs1420974027
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.833del (p.Asn278fs) rs2501464922
NM_025114.4(CEP290):c.844C>T (p.Gln282Ter) rs2501463457
NM_025114.4(CEP290):c.942+1G>C rs2039897317
NM_025114.4(CEP290):c.955del (p.Ser319fs) rs764507012

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