ClinVar Miner

List of variants in gene CEP290 studied for Meckel syndrome type 4

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Total variants: 19
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CEP290, 1-BP DEL, 5489A
CEP290, 4-BP DEL, 384TAGA
CEP290, EX3, T-A, +2
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs) rs386834149
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.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025114.3(CEP290):c.5745dup (p.Lys1916Terfs) rs751361090
NM_025114.3(CEP290):c.5850delT (p.Phe1950Leufs) rs386834159
NM_025114.3(CEP290):c.613C>T (p.Arg205Ter) rs137852835
NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter) rs863225185

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