{{Rsnum
|rsid=104893651
|Chromosome=2
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PAX3
|position=222297048
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CCDC140,PAX3
}}{{omim
|id=606597
|rsnum=104893651
|variant=0009
}}{{ClinVar
|rsid=104893651
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=223161767
|CHROM=2
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=PAX3:5077; CCDC140:151278
|GENE_NAME=PAX3; CCDC140
|GENE_ID=5077; 151278
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.223161767G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606597.0009
|CLNSIG=5
|CLNCUI=C0342680; C1847800
|CLNDBN=Klein-Waardenberg's syndrome; Waardenburg syndrome type 1
|Disease=Klein-Waardenberg's syndrome; Waardenburg syndrome type 1
|CLNACC=RCV000004432.1; RCV000004433.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=C0342680:148820:3440:896:237918004; NBK1531:C1847800:193500:3440:894
}}