ClinVar Miner

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

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NC_000012.12:g.88083854G>A
NC_000012.12:g.88109093T>A
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs) rs386834149
NM_025114.3(CEP290):c.1523-1G>T rs1192112844
NM_025114.3(CEP290):c.180+1G>A rs758593134
NM_025114.3(CEP290):c.180+2T>A rs386834150
NM_025114.3(CEP290):c.1860_1861delAA (p.Asp622Phefs) rs386834151
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.289G>T (p.Glu97Ter) rs386834153
NM_025114.3(CEP290):c.3175delA (p.Ile1059Terfs) rs62640570
NM_025114.3(CEP290):c.3446_3447delAA (p.Lys1149Serfs) rs386834155
NM_025114.3(CEP290):c.381_382delAGinsT (p.Lys127Asnfs) rs386834156
NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) rs386834157
NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4438-3delC rs747323414
NM_025114.3(CEP290):c.4813-2A>G rs369523378
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025114.3(CEP290):c.5850delT (p.Phe1950Leufs) rs386834159
NM_025114.3(CEP290):c.6358-1G>A rs766670248
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs)

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