{{Rsnum
|rsid=150726175
|Gene=NMNAT1
|Chromosome=1
|position=9982630
|Orientation=plus
|GMAF=0.0004591
|Gene_s=NMNAT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|RSPOS=9982630
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNACC=RCV000030765.2
|CLNDBN=Leber congenital amaurosis 9
|dbSNPBuildID=134
|FwdALT=A
|GENEINFO=NMNAT1:64802
|REF=G
|CAF=0.9995; 0.0004591
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|SAO=0
|Tags=PM;PMC;S3D;SLO;NSM;REF;ASP;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CLNSIG=5
|rsid=150726175
|CLNALLE=1
|COMMON=0
|CHROM=1
|VC=SNV
|Disease=Leber congenital amaurosis 9
|GENE_ID=64802
|VP=0x050368000a05040016110100
|WGT=1
|FwdREF=G
|CLNDSDBID=NBK1298:C1837873:608553:ORPHA65
|SSR=0
|GENE_NAME=NMNAT1
|CLNHGVS=NC_000001.11:g.9982630G>A
|ALT=A
|Reversed=0
|CLNSRCID=NM_022787.3:c.769G>A; NBK1298; 608700.0002
|CLNORIGIN=1
}}{{PMID Auto
|PMID=22842231
|Title=Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
}}