ClinVar Miner

List of variants in gene CEP290 reported as pathogenic for Senior-Loken syndrome 6

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Total variants: 20
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HGVS dbSNP
CEP290, 5-BP DEL
NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) rs886043303
NM_025114.3(CEP290):c.1665_1666delAA (p.Lys555Asnfs) rs727503855
NM_025114.3(CEP290):c.181-2A>G rs886042359
NM_025114.3(CEP290):c.1860_1863delAAGA (p.Arg621Ilefs) rs766608755
NM_025114.3(CEP290):c.2052+1_2052+2delGT rs747835249
NM_025114.3(CEP290):c.2668C>T (p.Gln890Ter) rs886044332
NM_025114.3(CEP290):c.2722C>T (p.Arg908Ter) rs886042153
NM_025114.3(CEP290):c.2911G>T (p.Glu971Ter) rs780805963
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.437delA (p.Glu146Glyfs) rs1452465499
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
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.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.3(CEP290):c.6604delA (p.Ile2202Leufs) rs758329611
NM_025114.3(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562
NM_025114.3(CEP290):c.7062_7063delGA (p.Lys2355Serfs) rs886042734

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