ClinVar Miner

List of variants in gene CEP290 reported as pathogenic for Joubert syndrome

Included ClinVar conditions (57):
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Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP
CEP290, 1-BP DEL, 4656A
NM_025114.3(CEP290):c.103-1G>T rs863225188
NM_025114.3(CEP290):c.1066-1G>A rs965522059
NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs) rs386834149
NM_025114.3(CEP290):c.1474A>T (p.Lys492Ter) rs1278679056
NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) rs886043303
NM_025114.3(CEP290):c.1623+1G>A rs863225186
NM_025114.3(CEP290):c.164_167delCTCA (p.Thr55Serfs) rs758550675
NM_025114.3(CEP290):c.1665_1666delAA (p.Lys555Asnfs) rs727503855
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.1666dupA (p.Ile556Asnfs) rs727503855
NM_025114.3(CEP290):c.1860_1863delAAGA (p.Arg621Ilefs) rs766608755
NM_025114.3(CEP290):c.1936C>T (p.Gln646Ter) rs780225183
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.2052+1_2052+2delGT rs747835249
NM_025114.3(CEP290):c.2112delA (p.Val705Leufs) rs863225183
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.2251C>T (p.Arg751Ter)
NM_025114.3(CEP290):c.2317dup (p.Ser773Lysfs) rs1555218898
NM_025114.3(CEP290):c.2343T>C (p.Asn781=) rs748034744
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3104-2A>G rs773386777
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3176delT (p.Ile1059Lysfs) rs863225184
NM_025114.3(CEP290):c.3185delT (p.Leu1062Argfs) rs863225189
NM_025114.3(CEP290):c.3205_3206delGAinsTG (p.Glu1069Ter) rs1555212150
NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) rs386834157
NM_025114.3(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.3(CEP290):c.4159dup (p.Ser1387Lysfs) rs1555208870
NM_025114.3(CEP290):c.4276_4277delAA (p.Asn1426Terfs) rs863224523
NM_025114.3(CEP290):c.4384delG (p.Glu1462Argfs) rs863225182
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs) rs780624853
NM_025114.3(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_025114.3(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.3(CEP290):c.4962_4963delAA (p.Glu1656Asnfs)
NM_025114.3(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179
NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs) rs756302731
NM_025114.3(CEP290):c.508A>T (p.Lys170Ter)
NM_025114.3(CEP290):c.5212G>T (p.Glu1738Ter) rs1555205328
NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.3(CEP290):c.5434_5435delGA (p.Glu1812Lysfs) rs757609119
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025114.3(CEP290):c.5512dup (p.Arg1838Lysfs)
NM_025114.3(CEP290):c.5611_5614delCAAA (p.Gln1871Valfs) rs727503853
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.3(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.3(CEP290):c.5931_5935delACGAG (p.Arg1978Phefs) rs1555201796
NM_025114.3(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247
NM_025114.3(CEP290):c.6072C>A (p.Tyr2024Ter) rs779262951
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
NM_025114.3(CEP290):c.6604delA (p.Ile2202Leufs) rs758329611
NM_025114.3(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562
NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs) rs587783017
NM_025114.3(CEP290):c.6939C>A (p.Tyr2313Ter) rs863225187
NM_025114.3(CEP290):c.828delA (p.Glu277Lysfs) rs1555225566

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