{{Rsnum
|rsid=104893650
|Chromosome=2
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PAX3
|position=222297150
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CCDC140,PAX3
}}{{omim
|id=606597
|rsnum=104893650
|variant=0002
}}{{ClinVar
|rsid=104893650
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=223161869
|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.223161869G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606597.0002
|CLNSIG=5
|CLNCUI=C1847800
|CLNDBN=Waardenburg syndrome type 1
|Disease=Waardenburg syndrome type 1
|CLNACC=RCV000004426.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1531:C1847800:193500:3440:894
}}