{{Rsnum
|rsid=281865192
|position=88101183
|Orientation=minus
|Chromosome=12
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CEP290
|Gene_s=CEP290
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=12
|CLNACC=RCV000001400.2; RCV000086286.1
|CLNALLE=1
|CLNDBN=Leber congenital amaurosis 10; not provided
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1298:NBK1325:C1857821:611755:65
|CLNHGVS=NC_000012.11:g.88494960T>C
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant; Retina International
|CLNSRCID=NBK1298; NBK1325; 610142.0005; RISN-CEP290:c.2991+1655A
|Disease=Leber congenital amaurosis 10; not provided
|FwdALT=G
|FwdREF=A
|REF=T
|RSPOS=88494960
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=281865192
|GENEINFO=CEP290:80184
|GENE_ID=80184
|GENE_NAME=CEP290
}}{{PMID Auto
|PMID=16909394
|Title=Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
|OA=1
}}