{{Rsnum
|rsid=137852835
|Chromosome=12
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CEP290
|position=88130324
|Gene_s=CEP290
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=610142
|variant=0010
|rsnum=137852835
}}{{ClinVar
|rsid=137852835
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=88524101
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=CEP290:80184
|GENE_NAME=CEP290
|GENE_ID=80184
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.88524101G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=610142.0010
|CLNSIG=5
|CLNCUI=C1970161
|CLNDBN=Meckel syndrome type 4
|Disease=Meckel syndrome type 4
|CLNACC=RCV000001407.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1970161:611134:564
}}