ClinVar Miner

List of variants reported as pathogenic for Intellectual developmental disorder with seizures and language delay by SIB Swiss Institute of Bioinformatics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001353345.2(SETD1B):c.2932C>T (p.Gln978Ter)	rs1876334453
NM_001353345.2(SETD1B):c.3964C>T (p.Gln1322Ter)	rs1876610129
NM_001353345.2(SETD1B):c.5704C>T (p.Arg1902Cys)	rs1876922399

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