ClinVar Miner

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

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Total variants: 29
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 6q27(chr6:169830713-171022896)x1
NM_001353345.2(SETD1B):c.1371dup (p.Asp458fs) rs2137552415
NM_001353345.2(SETD1B):c.1579C>T (p.Gln527Ter) rs2137553018
NM_001353345.2(SETD1B):c.214del (p.Arg72fs) rs2500165101
NM_001353345.2(SETD1B):c.2258_2264del (p.Leu752_Phe753insTer) rs1876191880
NM_001353345.2(SETD1B):c.22dup (p.His8fs) rs777278685
NM_001353345.2(SETD1B):c.2338C>T (p.Gln780Ter)
NM_001353345.2(SETD1B):c.2358dup (p.Thr787fs)
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.293_294insAACGTGGG (p.Pro99fs) rs2137544133
NM_001353345.2(SETD1B):c.2992C>T (p.Arg998Ter)
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.5107C>T (p.Arg1703Ter)
NM_001353345.2(SETD1B):c.5325dup (p.Ala1776fs) rs755420944
NM_001353345.2(SETD1B):c.5384C>T (p.Ser1795Leu) rs2500251718
NM_001353345.2(SETD1B):c.5619T>G (p.Tyr1873Ter) rs752096360
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
NM_001353345.2(SETD1B):c.598del (p.Gln200fs) rs1244562984
NM_001353345.2(SETD1B):c.598dup (p.Gln200fs) rs1244562984
NM_001353345.2(SETD1B):c.62C>A (p.Ser21Ter) rs12814488

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