{{Rsnum
|rsid=387907293
|Chromosome=1
|position=9982318
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=NMNAT1
|Gene_s=NMNAT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=1
|CLNACC=RCV000030770.1
|CLNALLE=1
|CLNDBN=Leber congenital amaurosis 9
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1298:C1837873:608553:ORPHA65
|CLNHGVS=NC_000001.11:g.9982318C>G
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_022787.3:c.457C>G; 608700.0008
|Disease=Leber congenital amaurosis 9
|FwdALT=G
|FwdREF=C
|REF=C
|RSPOS=9982318
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;NSM;REF;R3;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060040a05000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=387907293
|GENEINFO=NMNAT1:64802
|GENE_ID=64802
|GENE_NAME=NMNAT1
|CLNORIGIN=1
}}