ClinVar Miner

List of variants in gene CEP290 reported as pathogenic by GeneDx

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Total variants: 21
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HGVS dbSNP
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.3(CEP290):c.1781T>A (p.Leu594Ter) rs371496675
NM_025114.3(CEP290):c.1936C>T (p.Gln646Ter) rs780225183
NM_025114.3(CEP290):c.2969delC (p.Thr990Lysfs) rs1064793733
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3123dup (p.Lys1042Terfs) rs1555212271
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3461+1G>A rs766952056
NM_025114.3(CEP290):c.3943G>T (p.Glu1315Ter) rs886042020
NM_025114.3(CEP290):c.4257dupC (p.Ile1420Hisfs) rs1555208180
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.4966G>T (p.Glu1656Ter) rs62638179
NM_025114.3(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681
NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
NM_025114.3(CEP290):c.6364A>T (p.Arg2122Ter) rs1555197766
NM_025114.3(CEP290):c.828delA (p.Glu277Lysfs) rs1555225566

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