ClinVar Miner

List of variants in gene CEP290 studied for Joubert syndrome 1

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 465
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HGVS dbSNP
NC_000012.12:g.(?_88058838)_(88061004_?)dup
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) rs886043303
NM_025114.3(CEP290):c.5434_5435delGA (p.Glu1812Lysfs) rs757609119
NM_025114.3(CEP290):c.5515_5518delGAGA (p.Glu1839Lysfs) rs281865187
NM_025114.3(CEP290):c.5649dupA (p.Leu1884Thrfs) rs281865188
NM_025114.3(CEP290):c.5813_5817delCTTTA (p.Thr1938Asnfs) rs62638180
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.3:c.5728_5731delATTA rs754728136
NM_025114.4(CEP290):c.-8_2del (p.Met1fs)
NM_025114.4(CEP290):c.1028T>C (p.Leu343Pro)
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys)
NM_025114.4(CEP290):c.1057C>T (p.Leu353=) rs1036812157
NM_025114.4(CEP290):c.1066-1G>A rs965522059
NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter) rs1592656929
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys)
NM_025114.4(CEP290):c.1108C>G (p.Gln370Glu)
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
NM_025114.4(CEP290):c.1189+1G>A
NM_025114.4(CEP290):c.1198A>G (p.Thr400Ala)
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587
NM_025114.4(CEP290):c.1338del (p.Arg447fs)
NM_025114.4(CEP290):c.1360-4T>G rs200328638
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868
NM_025114.4(CEP290):c.1390G>C (p.Glu464Gln) rs1437841365
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)
NM_025114.4(CEP290):c.1393del (p.Glu464_Ile465insTer)
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.4(CEP290):c.1440A>G (p.Glu480=) rs777299440
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile)
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1455A>G (p.Glu485=) rs755893750
NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter) rs1278679056
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr) rs1434632102
NM_025114.4(CEP290):c.1508T>G (p.Leu503Arg)
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.4(CEP290):c.1522+1G>C rs1592639588
NM_025114.4(CEP290):c.1522+6C>T rs148446546
NM_025114.4(CEP290):c.1523-1G>T rs1192112844
NM_025114.4(CEP290):c.1523-6T>C rs755202424
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn) rs750163383
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.4(CEP290):c.1565A>G (p.Asn522Ser)
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1623+1G>A rs863225186
NM_025114.4(CEP290):c.1624-5T>C rs142742071
NM_025114.4(CEP290):c.1624-5T>G
NM_025114.4(CEP290):c.1625T>C (p.Ile542Thr)
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1665A>T (p.Lys555Asn) rs374824892
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129
NM_025114.4(CEP290):c.166C>T (p.Gln56Ter) rs1592706963
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.4(CEP290):c.1711+8C>T rs765158159
NM_025114.4(CEP290):c.1712-2A>T
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052
NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter)
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1825-8T>G rs769405843
NM_025114.4(CEP290):c.1826A>G (p.Asn609Ser)
NM_025114.4(CEP290):c.1856_1859AAGA[1] (p.Arg621fs) rs766608755
NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter) rs1203763812
NM_025114.4(CEP290):c.1862_1863GA[1] (p.Asp622fs)
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys)
NM_025114.4(CEP290):c.1972A>G (p.Ile658Val)
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.4(CEP290):c.1992del (p.Pro665fs)
NM_025114.4(CEP290):c.2033G>T (p.Ser678Ile)
NM_025114.4(CEP290):c.204G>A (p.Leu68=) rs780930630
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2053G>A (p.Ala685Thr)
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val)
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2090C>T (p.Ala697Val)
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382
NM_025114.4(CEP290):c.2112del (p.Val705fs) rs863225183
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs) rs62640580
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala)
NM_025114.4(CEP290):c.2168G>A (p.Arg723Gln)
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser) rs752513342
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.2218-13dup rs143621850
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe)
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln)
NM_025114.4(CEP290):c.2268= (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
NM_025114.4(CEP290):c.2367+4T>C rs1413934261
NM_025114.4(CEP290):c.2379_2381del (p.Asn793del)
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys) rs779666225
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780
NM_025114.4(CEP290):c.251-10A>T rs190383141
NM_025114.4(CEP290):c.251-2A>G
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val) rs1313832672
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.4(CEP290):c.256C>A (p.Gln86Lys)
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733
NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter)
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe)
NM_025114.4(CEP290):c.2704A>T (p.Thr902Ser)
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153
NM_025114.4(CEP290):c.2728C>T (p.Leu910Phe)
NM_025114.4(CEP290):c.2778T>C (p.Ala926=) rs767032720
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153
NM_025114.4(CEP290):c.2928C>T (p.Tyr976=) rs1393060819
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs)
NM_025114.4(CEP290):c.2951A>T (p.Asn984Ile)
NM_025114.4(CEP290):c.2955G>A (p.Met985Ile)
NM_025114.4(CEP290):c.297+1G>T rs878853360
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.4(CEP290):c.2991+1655A>G rs281865192
NM_025114.4(CEP290):c.3013G>C (p.Glu1005Gln)
NM_025114.4(CEP290):c.3024G>A (p.Glu1008=) rs1227765663
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val)
NM_025114.4(CEP290):c.3081C>A (p.Ala1027=) rs779561006
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr)
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.3104-5T>G rs1302558061
NM_025114.4(CEP290):c.3115A>C (p.Ser1039Arg)
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu)
NM_025114.4(CEP290):c.3132G>T (p.Lys1044Asn) rs762342726
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala)
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120
NM_025114.4(CEP290):c.3205_3206delinsTG (p.Glu1069Ter) rs1555212150
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs)
NM_025114.4(CEP290):c.3215G>A (p.Arg1072Gln)
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
NM_025114.4(CEP290):c.3246C>T (p.His1082=) rs539042966
NM_025114.4(CEP290):c.3249_3250insAA (p.Arg1084fs)
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp)
NM_025114.4(CEP290):c.3273G>A (p.Glu1091=) rs771584252
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3310-1_3310delinsAA
NM_025114.4(CEP290):c.3310-7T>G rs373298179
NM_025114.4(CEP290):c.331C>T (p.Arg111Trp)
NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser)
NM_025114.4(CEP290):c.338T>A (p.Leu113Ter)
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln)
NM_025114.4(CEP290):c.3418G>A (p.Glu1140Lys) rs766095901
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=) rs762723146
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs)
NM_025114.4(CEP290):c.3428A>G (p.Lys1143Arg)
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684
NM_025114.4(CEP290):c.3461+1G>A rs766952056
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.4(CEP290):c.3481A>T (p.Ile1161Phe)
NM_025114.4(CEP290):c.3486C>T (p.Ala1162=) rs376583223
NM_025114.4(CEP290):c.3498T>G (p.Val1166=) rs750099379
NM_025114.4(CEP290):c.3514C>T (p.Gln1172Ter)
NM_025114.4(CEP290):c.3520C>T (p.Gln1174Ter)
NM_025114.4(CEP290):c.3533del (p.Lys1178fs)
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=) rs900618917
NM_025114.4(CEP290):c.3573+2T>C
NM_025114.4(CEP290):c.3573+3A>G
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter)
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024
NM_025114.4(CEP290):c.3594G>A (p.Ser1198=) rs376645523
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.4(CEP290):c.3710G>T (p.Arg1237Leu)
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly)
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr)
NM_025114.4(CEP290):c.3783del (p.Lys1261fs)
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met) rs370395204
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His)
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter) rs1468942944
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu)
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr) rs761010723
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4030-2A>G
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter) rs1339975972
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val) rs923112337
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619
NM_025114.4(CEP290):c.4068T>G (p.Leu1356=) rs377227262
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys)
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941
NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter) rs1459653241
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val)
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.4(CEP290):c.4268G>A (p.Arg1423His)
NM_025114.4(CEP290):c.4276_4277del (p.Gln1425_Asn1426insTer) rs863224523
NM_025114.4(CEP290):c.4288A>C (p.Asn1430His) rs749261915
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val)
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg)
NM_025114.4(CEP290):c.4320A>T (p.Gly1440=)
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys)
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.4(CEP290):c.4411C>T (p.Arg1471Trp)
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.4428A>G (p.Ser1476=) rs1206552589
NM_025114.4(CEP290):c.4437+1G>A rs760915898
NM_025114.4(CEP290):c.4438-3del rs747323414
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=) rs1220385672
NM_025114.4(CEP290):c.4448_4451AGAA[1] (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369
NM_025114.4(CEP290):c.4485A>G (p.Ile1495Met)
NM_025114.4(CEP290):c.4501G>A (p.Val1501Ile)
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val)
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.4586C>G (p.Pro1529Arg)
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr)
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys)
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=) rs189871589
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp) rs1592836704
NM_025114.4(CEP290):c.4705-1G>T rs777464278
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.4(CEP290):c.4730A>G (p.His1577Arg)
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met) rs369451049
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.4(CEP290):c.4808_4812del (p.Ala1603fs)
NM_025114.4(CEP290):c.4813-2A>G rs369523378
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser)
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs)
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.4(CEP290):c.4894G>A (p.Glu1632Lys)
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.4964_4965GA[1] (p.Glu1656fs) rs756302731
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs)
NM_025114.4(CEP290):c.5012+10C>T rs191369238
NM_025114.4(CEP290):c.5012+2T>C rs1369768287
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874
NM_025114.4(CEP290):c.5083G>T (p.Asp1695Tyr) rs1209477107
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs)
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.5158A>G (p.Thr1720Ala) rs1555205391
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val) rs542400806
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.4(CEP290):c.5204C>T (p.Ala1735Val)
NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter) rs1555205328
NM_025114.4(CEP290):c.5226+5_5226+8del
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5227-9A>G rs571981633
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)
NM_025114.4(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117
NM_025114.4(CEP290):c.5256G>A (p.Arg1752=) rs754590700
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.4(CEP290):c.534G>T (p.Gln178His)
NM_025114.4(CEP290):c.5371G>C (p.Val1791Leu)
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=) rs1034544936
NM_025114.4(CEP290):c.5415del (p.Thr1807fs) rs1592808035
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321
NM_025114.4(CEP290):c.5431A>G (p.Arg1811Gly)
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs) rs749331348
NM_025114.4(CEP290):c.5449G>T (p.Asp1817Tyr)
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.4(CEP290):c.5512dup (p.Arg1838fs) rs1565822519
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678
NM_025114.4(CEP290):c.5574C>T (p.Thr1858=) rs775652694
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg)
NM_025114.4(CEP290):c.5586+9A>G rs746293904
NM_025114.4(CEP290):c.5587-1G>C rs968692633
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.563A>T (p.Asp188Val) rs746511786
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln) rs186330724
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.4(CEP290):c.5709+1G>A
NM_025114.4(CEP290):c.5733G>T (p.Arg1911Ser) rs1565813077
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090
NM_025114.4(CEP290):c.5766A>T (p.Ile1922=) rs1027531979
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=) rs561598805
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.5813C>T (p.Thr1938Ile)
NM_025114.4(CEP290):c.5830A>T (p.Asn1944Tyr)
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.5852C>G (p.Ala1951Gly)
NM_025114.4(CEP290):c.5873_5874del (p.Leu1958fs)
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys)
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala)
NM_025114.4(CEP290):c.5931_5935del (p.Arg1978fs) rs1555201796
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=) rs112738303
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys) rs573872325
NM_025114.4(CEP290):c.6012-2A>G
NM_025114.4(CEP290):c.6043_6053del (p.Val2015fs)
NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His)
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr)
NM_025114.4(CEP290):c.6271-6_6274del
NM_025114.4(CEP290):c.6271-8T>C
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg)
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser)
NM_025114.4(CEP290):c.6358-1G>A rs766670248
NM_025114.4(CEP290):c.6358-4G>A rs369154492
NM_025114.4(CEP290):c.6358-5C>T rs372986399
NM_025114.4(CEP290):c.635dup (p.Asn212fs)
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu)
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp)
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile)
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr) rs535765861
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu)
NM_025114.4(CEP290):c.6580T>A (p.Ser2194Thr)
NM_025114.4(CEP290):c.6582C>T (p.Ser2194=) rs1592739990
NM_025114.4(CEP290):c.6599A>G (p.Glu2200Gly)
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.660T>C (p.Asp220=) rs777201814
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544
NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter)
NM_025114.4(CEP290):c.6645+1G>A rs201218801
NM_025114.4(CEP290):c.6666A>G (p.Lys2222=) rs544886883
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln)
NM_025114.4(CEP290):c.6686A>G (p.Asn2229Ser)
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
NM_025114.4(CEP290):c.6760dup (p.Arg2254fs)
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp) rs377561473
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg)
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg)
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371
NM_025114.4(CEP290):c.6807T>G (p.Ile2269Met) rs1355908667
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)
NM_025114.4(CEP290):c.6869del (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=) rs774138995
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs)
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)
NM_025114.4(CEP290):c.6960+10G>A rs75011402
NM_025114.4(CEP290):c.6960+5_6960+8del
NM_025114.4(CEP290):c.6960+9C>T rs373226012
NM_025114.4(CEP290):c.7005A>G (p.Gln2335=) rs1592722143
NM_025114.4(CEP290):c.7007G>A (p.Gly2336Asp) rs863224794
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu) rs183387506
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro)
NM_025114.4(CEP290):c.7084A>T (p.Ile2362Leu)
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met)
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp)
NM_025114.4(CEP290):c.758_760del (p.Met253del)
NM_025114.4(CEP290):c.784G>A (p.Ala262Thr)
NM_025114.4(CEP290):c.787A>G (p.Ile263Val)
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp)
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025114.4(CEP290):c.833_836dup (p.Asp279fs)
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515
NM_025114.4(CEP290):c.838C>T (p.His280Tyr)
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425
NM_025114.4(CEP290):c.881C>G (p.Ser294Ter) rs1592668925
NM_025114.4(CEP290):c.894A>T (p.Glu298Asp)
NM_025114.4(CEP290):c.942+1G>C
NM_025114.4(CEP290):c.943-4C>T rs199770158
NM_025114.4(CEP290):c.943-8A>T rs200729812
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr)

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