{{Rsnum
|rsid=137852834
|Chromosome=12
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=CEP290
|position=88083936
|Gene_s=CEP290
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=610142
|variant=0007
|rsnum=137852834
}}{{ClinVar
|rsid=137852834
|Reversed=1
|FwdREF=A
|FwdALT=T
|REF=T
|ALT=A
|RSPOS=88477713
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=CEP290:80184
|GENE_NAME=CEP290
|GENE_ID=80184
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.88477713T>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=610142.0007
|CLNSIG=5
|CLNCUI=C1857780; C1857821
|CLNDBN=Joubert syndrome 5; Leber congenital amaurosis 10
|Disease=Joubert syndrome 5; Leber congenital amaurosis 10
|CLNACC=RCV000001402.1; RCV000001403.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1325:C1857780:610188:2318; NBK1298:NBK1325:C1857821:611755:65
}}