ClinVar Miner

List of variants reported as pathogenic for Williams syndrome

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Total variants: 21
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 7q11.23(chr7:72589195-74225562)
GRCh37/hg19 7q11.23(chr7:72589515-74629034)
GRCh37/hg19 7q11.23(chr7:72645013-74142190)
GRCh37/hg19 7q11.23(chr7:72700127-74142190)
GRCh37/hg19 7q11.23(chr7:72700942-74142190)
GRCh37/hg19 7q11.23(chr7:72700996-74142190)
GRCh37/hg19 7q11.23(chr7:72700996-74142256)
GRCh37/hg19 7q11.23(chr7:72701084-74142190)
GRCh37/hg19 7q11.23(chr7:72717395-74173168)
GRCh37/hg19 7q11.23(chr7:72718123-74141784)
GRCh37/hg19 7q11.23(chr7:72718123-74142190)
GRCh37/hg19 7q11.23(chr7:72721449-73959106)
GRCh37/hg19 7q11.23(chr7:72744494-74339044)
GRCh37/hg19 7q11.23(chr7:72744494-76038818)
GRCh37/hg19 7q11.23(chr7:72772522-74133319)
GRCh37/hg19 7q11.23(chr7:72921550-74145628)
GRCh38/hg38 7q11.23(chr7:73229597-74727852)
NC_000007.14:g.73304277_74727414del
NC_000007.14:g.73773313_74086695del
NM_000501.4(ELN):c.1104_1105del (p.Ser369fs) rs1794880739
Single allele

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