ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability, autosomal dominant 47 by Baylor Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1
GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1
GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.1129C>T (p.Arg377Cys) rs1559824939
NM_005862.3(STAG1):c.2009_2012del (p.Asn670fs) rs1559791842
NM_005862.3(STAG1):c.418C>T (p.Arg140Ter) rs1435519890

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