ClinVar Miner

List of variants in gene CEP290 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (1030):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP
CEP290, 1-BP DEL, 5489A
CEP290, 4-BP DEL, 384TAGA
CEP290, 5-BP DEL
CEP290, EX3, T-A, +2
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:c.5728_5731delATTA rs754728136
NM_025114.4(CEP290):c.-8_2del (p.Met1fs)
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.1189+1G>A
NM_025114.4(CEP290):c.1338del (p.Arg447fs)
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.1474A>T (p.Lys492Ter) rs1278679056
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.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.166C>T (p.Gln56Ter) rs1592706963
NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter)
NM_025114.4(CEP290):c.180+1G>A rs758593134
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.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.4(CEP290):c.1992del (p.Pro665fs)
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.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter)
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs)
NM_025114.4(CEP290):c.297+1G>T rs878853360
NM_025114.4(CEP290):c.2991+1655A>G rs281865192
NM_025114.4(CEP290):c.3104-5T>G rs1302558061
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3205_3206delinsTG (p.Glu1069Ter) rs1555212150
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs)
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
NM_025114.4(CEP290):c.3249_3250insAA (p.Arg1084fs)
NM_025114.4(CEP290):c.3310-1_3310delinsAA
NM_025114.4(CEP290):c.338T>A (p.Leu113Ter)
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs)
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.3593C>A (p.Ser1198Ter)
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)
NM_025114.4(CEP290):c.3783del (p.Lys1261fs)
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.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter) rs1339975972
NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter) rs1459653241
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.4(CEP290):c.4448_4451AGAA[1] (p.Lys1484fs) rs780624853
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.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
NM_025114.4(CEP290):c.4705-1G>T rs777464278
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.4(CEP290):c.4808_4812del (p.Ala1603fs)
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs)
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
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.4985_4986del (p.Val1662fs)
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs)
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681
NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter) rs1555205328
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.4(CEP290):c.5415del (p.Thr1807fs) rs1592808035
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs) rs749331348
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5512dup (p.Arg1838fs) rs1565822519
NM_025114.4(CEP290):c.5587-1G>C rs968692633
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.4(CEP290):c.5707A>T (p.Lys1903Ter) rs878855334
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.5873_5874del (p.Leu1958fs)
NM_025114.4(CEP290):c.5931_5935del (p.Arg1978fs) rs1555201796
NM_025114.4(CEP290):c.6012-2A>G
NM_025114.4(CEP290):c.6043_6053del (p.Val2015fs)
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835
NM_025114.4(CEP290):c.635dup (p.Asn212fs)
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter)
NM_025114.4(CEP290):c.673_674del (p.Leu225fs) rs886039805
NM_025114.4(CEP290):c.6760dup (p.Arg2254fs)
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562
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.6919_6920del (p.Glu2307fs)
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025114.4(CEP290):c.833_836dup (p.Asp279fs)

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