ClinVar Miner

List of variants studied for CEP290-related ciliopathy by Baylor Genetics

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 379
Download table as spreadsheet
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 0.00029
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 0.00009
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.6645+1G>A rs201218801 0.00006
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00004
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.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 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.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00002
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter) rs137852833 0.00002
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103 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.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs) rs767231715 0.00002
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter) rs775189201 0.00002
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.1627G>T (p.Glu543Ter) rs1186821575 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.2414T>C (p.Leu805Pro) rs762633090 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.3802C>T (p.Gln1268Ter) rs1468942944 0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter) rs1412133967 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.4651C>T (p.Gln1551Ter) rs746305733 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.5163del (p.Thr1722fs) rs1565827171 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 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.102+2T>A
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter) rs2138021345
NM_025114.4(CEP290):c.1062del (p.Gln354fs)
NM_025114.4(CEP290):c.1132del (p.Met378fs)
NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter)
NM_025114.4(CEP290):c.1169dup (p.Asn390fs)
NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter)
NM_025114.4(CEP290):c.1189+1G>A rs2039659434
NM_025114.4(CEP290):c.1189+2T>C
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.1225_1226insAAAGA (p.Ile409fs)
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
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter) rs1437841365
NM_025114.4(CEP290):c.1397_1400del (p.Lys466fs)
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.1439_1450delinsG (p.Glu480fs)
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1453dup (p.Glu485fs)
NM_025114.4(CEP290):c.1471_1475del (p.Leu491fs)
NM_025114.4(CEP290):c.1495G>T (p.Glu499Ter)
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)
NM_025114.4(CEP290):c.1588C>T (p.Gln530Ter)
NM_025114.4(CEP290):c.1594del (p.Arg532fs)
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer)
NM_025114.4(CEP290):c.1623+1G>A rs863225186
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter)
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
NM_025114.4(CEP290):c.1681C>T (p.Gln561Ter)
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
NM_025114.4(CEP290):c.1824+1G>A
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.1835_1838del (p.Leu612fs)
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
NM_025114.4(CEP290):c.1910-11T>G rs1555220638
NM_025114.4(CEP290):c.1910-1G>A
NM_025114.4(CEP290):c.1914del (p.Glu639fs)
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.1992del (p.Pro665fs) rs770175184
NM_025114.4(CEP290):c.2052+1G>A
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)
NM_025114.4(CEP290):c.2176del (p.Ala726fs)
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
NM_025114.4(CEP290):c.2218-2A>G
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)
NM_025114.4(CEP290):c.2304del (p.Gly768_Ile769insTer)
NM_025114.4(CEP290):c.2355dup (p.His786fs)
NM_025114.4(CEP290):c.2367+1G>A
NM_025114.4(CEP290):c.2389_2390del (p.Lys797fs)
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2404_2433delinsAC (p.Glu802fs)
NM_025114.4(CEP290):c.2433del (p.Lys811fs) rs2137663442
NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter)
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter) rs2137624440
NM_025114.4(CEP290):c.2506G>T (p.Glu836Ter)
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs) rs1223251937
NM_025114.4(CEP290):c.2510del (p.Ser837fs)
NM_025114.4(CEP290):c.2515_2518del (p.Lys838_Thr839insTer)
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)
NM_025114.4(CEP290):c.2586+1G>A
NM_025114.4(CEP290):c.2587-1G>T
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)
NM_025114.4(CEP290):c.270_274del (p.Lys90fs)
NM_025114.4(CEP290):c.272_276del (p.Val91fs) rs2040498071
NM_025114.4(CEP290):c.2794dup (p.Ile932fs)
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)
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.297+1G>C
NM_025114.4(CEP290):c.2991+1G>A
NM_025114.4(CEP290):c.2992-1G>A
NM_025114.4(CEP290):c.2999del (p.Asn1000fs)
NM_025114.4(CEP290):c.3012del (p.Glu1005fs) rs1555213204
NM_025114.4(CEP290):c.3016C>T (p.Gln1006Ter)
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter) rs1555212271
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)
NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter)
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs) rs778407127
NM_025114.4(CEP290):c.3234_3235del (p.Lys1078fs)
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3310-1G>A
NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs) rs770474857
NM_025114.4(CEP290):c.3461+1G>C
NM_025114.4(CEP290):c.3461+2T>G
NM_025114.4(CEP290):c.3462-2A>G
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter) rs2036977924
NM_025114.4(CEP290):c.3574-1G>A
NM_025114.4(CEP290):c.3574-2A>G
NM_025114.4(CEP290):c.3596del (p.Leu1199fs)
NM_025114.4(CEP290):c.3606_3615del (p.Lys1202fs)
NM_025114.4(CEP290):c.3664G>T (p.Glu1222Ter)
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3721A>T (p.Lys1241Ter)
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs) rs2137276301
NM_025114.4(CEP290):c.3750_3753delinsA (p.Tyr1250_Tyr1251delinsTer)
NM_025114.4(CEP290):c.3783del (p.Lys1261fs) rs2036833257
NM_025114.4(CEP290):c.3799del (p.Ile1267fs)
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.3825_3829del (p.Gly1276fs)
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)
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.4(CEP290):c.3917del (p.Asn1306fs)
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter) rs2036816455
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4033del (p.Ile1345fs)
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter) rs1339975972
NM_025114.4(CEP290):c.4081_4084del (p.Leu1361fs)
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs) rs62640582
NM_025114.4(CEP290):c.4225del (p.Gln1409fs)
NM_025114.4(CEP290):c.4348_4356delinsTC (p.Pro1450fs)
NM_025114.4(CEP290):c.4384del (p.Glu1462fs) rs863225182
NM_025114.4(CEP290):c.441+1G>C
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4485del (p.Leu1496fs)
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)
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.4771del (p.Gln1591fs)
NM_025114.4(CEP290):c.4812+1del
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs) rs2036318355
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)
NM_025114.4(CEP290):c.4918_4927del (p.Leu1640fs)
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)
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)
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs) rs2036306894
NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter)
NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter)
NM_025114.4(CEP290):c.5012+1G>A
NM_025114.4(CEP290):c.5012+2T>G
NM_025114.4(CEP290):c.5029_5030del (p.Glu1677fs)
NM_025114.4(CEP290):c.5046del (p.Lys1682_Val1683insTer)
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)
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.5147C>A (p.Ser1716Ter)
NM_025114.4(CEP290):c.5192dup (p.Ser1732fs)
NM_025114.4(CEP290):c.5223_5224del (p.Lys1742fs)
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)
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp) rs748471942
NM_025114.4(CEP290):c.5255_5258del (p.Arg1752fs)
NM_025114.4(CEP290):c.5263del (p.Glu1754_Met1755insTer)
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)
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
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)
NM_025114.4(CEP290):c.550_556dup (p.Gln186fs)
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs) rs281865187
NM_025114.4(CEP290):c.5519_5537del (p.Lys1840fs)
NM_025114.4(CEP290):c.5546_5549del (p.Glu1849fs)
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
NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter)
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs) rs754728136
NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
NM_025114.4(CEP290):c.5750del (p.Lys1917fs)
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)
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)
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
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)
NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)
NM_025114.4(CEP290):c.584T>G (p.Leu195Ter)
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
NM_025114.4(CEP290):c.5855+2T>G
NM_025114.4(CEP290):c.5856-1G>T
NM_025114.4(CEP290):c.5953del (p.Glu1985fs)
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
NM_025114.4(CEP290):c.6138_6139delinsC (p.Ser2047fs)
NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter)
NM_025114.4(CEP290):c.619C>T (p.Gln207Ter)
NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)
NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter)
NM_025114.4(CEP290):c.6262del (p.Arg2088fs)
NM_025114.4(CEP290):c.626del (p.Ser209fs)
NM_025114.4(CEP290):c.6270+1G>T
NM_025114.4(CEP290):c.6270+2T>C
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025114.4(CEP290):c.6276_6280dup (p.Arg2094fs)
NM_025114.4(CEP290):c.628A>T (p.Lys210Ter) rs763473957
NM_025114.4(CEP290):c.6325G>T (p.Glu2109Ter)
NM_025114.4(CEP290):c.6337A>T (p.Lys2113Ter)
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)
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)
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)
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)
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
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)
NM_025114.4(CEP290):c.6928dup (p.Val2310fs)
NM_025114.4(CEP290):c.6933del (p.Asn2311fs)
NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter) rs863225187
NM_025114.4(CEP290):c.7003C>T (p.Gln2335Ter)
NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549
NM_025114.4(CEP290):c.7031_7034+7delinsAT
NM_025114.4(CEP290):c.7035-1G>T
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7130-2del
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7157_7158del (p.Lys2386fs)
NM_025114.4(CEP290):c.715del (p.Glu238_Met239insTer)
NM_025114.4(CEP290):c.7162_7163del (p.Leu2388fs)
NM_025114.4(CEP290):c.7163_7164del (p.Leu2388fs)
NM_025114.4(CEP290):c.7165G>T (p.Glu2389Ter)
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7209+1G>A
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7233del (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7234del (p.Glu2412fs) rs2136547710
NM_025114.4(CEP290):c.7240G>T (p.Glu2414Ter)
NM_025114.4(CEP290):c.7248del (p.Phe2416fs)
NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)
NM_025114.4(CEP290):c.7256_7259del (p.Ser2419fs)
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs) rs1482471100
NM_025114.4(CEP290):c.7311del (p.Asn2438fs)
NM_025114.4(CEP290):c.7327_7330delinsTATT (p.Glu2443_Lys2444delinsTyrTer)
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7334dup (p.Leu2448fs)
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
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)
NM_025114.4(CEP290):c.844C>T (p.Gln282Ter)
NM_025114.4(CEP290):c.853-2A>G
NM_025114.4(CEP290):c.942+1G>C rs2039897317
NM_025114.4(CEP290):c.955del (p.Ser319fs) rs764507012

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.