ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 47 by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg) rs1471479119 0.00001
NM_005862.3(STAG1):c.3241C>T (p.Arg1081Ter) rs1267304310

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