ClinVar Miner

List of variants in gene CEP290 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 15
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NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.3(CEP290):c.2682_2683insA (p.Ser895Ilefs) rs1555216730
NM_025114.3(CEP290):c.2817+4C>T rs768895932
NM_025114.3(CEP290):c.3107A>G (p.Asn1036Ser) rs1064797172
NM_025114.3(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024
NM_025114.3(CEP290):c.3784_3785insTT (p.His1262Leufs) rs1064797171
NM_025114.3(CEP290):c.4029G>A (p.Lys1343=) rs1057519245
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.43C>G (p.Pro15Ala) rs1425716932
NM_025114.3(CEP290):c.4654_4659del (p.Lys1552_Glu1553del) rs1555207186
NM_025114.3(CEP290):c.6135+2T>A rs1555200648
NM_025114.3(CEP290):c.6516delA (p.Lys2172Asnfs) rs1057519165
NM_025114.3(CEP290):c.6646-11T>G rs1431021703
NM_025114.3(CEP290):c.7048C>A (p.Gln2350Lys) rs375548374
NM_025114.3(CEP290):c.852+3A>G rs1555225551

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