List of variants reported as pathogenic for Intellectual developmental disorder with seizures and language delay by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001353345.2(SETD1B):c.284_286delinsA (p.Phe95_Tyr96delinsTer)	rs2500168661
NM_001353345.2(SETD1B):c.2932C>T (p.Gln978Ter)	rs1876334453
NM_001353345.2(SETD1B):c.337_363inv (p.Asn113_Asp121delinsValProGlnGluValPheThrAspVal)
NM_001353345.2(SETD1B):c.3386C>T (p.Ala1129Val)	rs2500215282
NM_001353345.2(SETD1B):c.3901C>T (p.Arg1301Ter)	rs2137572221
NM_001353345.2(SETD1B):c.3964C>T (p.Gln1322Ter)	rs1876610129
NM_001353345.2(SETD1B):c.5653C>T (p.Arg1885Trp)	rs1876920040
NM_001353345.2(SETD1B):c.5702C>A (p.Ala1901Glu)	rs2500253573
NM_001353345.2(SETD1B):c.5704C>T (p.Arg1902Cys)	rs1876922399
NM_001353345.2(SETD1B):c.5773_5776del (p.Ile1925fs)	rs1877023557
NM_001353345.2(SETD1B):c.5833T>C (p.Phe1945Leu)	rs1877026127
NM_001353345.2(SETD1B):c.5842G>A (p.Glu1948Lys)	rs2137594297

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