ClinVar Miner

List of variants in gene SETD1B reported as likely pathogenic for Intellectual developmental disorder with seizures and language delay

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001353345.2(SETD1B):c.1085del (p.Gly362fs) rs2500183969
NM_001353345.2(SETD1B):c.2158del (p.His720fs) rs2500200230
NM_001353345.2(SETD1B):c.2241del (p.Pro749fs) rs2500200910
NM_001353345.2(SETD1B):c.22dup (p.His8fs) rs777278685
NM_001353345.2(SETD1B):c.2738C>A (p.Ser913Ter)
NM_001353345.2(SETD1B):c.282del (p.Glu94fs)
NM_001353345.2(SETD1B):c.2943del (p.Arg982fs) rs2500212165
NM_001353345.2(SETD1B):c.3595del (p.Glu1199fs) rs2500221145
NM_001353345.2(SETD1B):c.386T>G (p.Val129Gly) rs2137544259
NM_001353345.2(SETD1B):c.4051_4052del (p.Pro1351fs)
NM_001353345.2(SETD1B):c.4170_4171del (p.Gly1392fs) rs2137578021
NM_001353345.2(SETD1B):c.4170del (p.Gly1392fs) rs2500232999
NM_001353345.2(SETD1B):c.4241C>A (p.Ser1414Tyr) rs2500233324
NM_001353345.2(SETD1B):c.4749del (p.Pro1584fs)
NM_001353345.2(SETD1B):c.5100_5103del (p.Tyr1701fs) rs2500238557
NM_001353345.2(SETD1B):c.5107C>T (p.Arg1703Ter)
NM_001353345.2(SETD1B):c.5126dup (p.Asn1709fs) rs2500238632
NM_001353345.2(SETD1B):c.5375G>A (p.Arg1792Gln) rs2137588997
NM_001353345.2(SETD1B):c.544+2T>C rs1419959359
NM_001353345.2(SETD1B):c.5473C>T (p.Arg1825Trp) rs2500252391
NM_001353345.2(SETD1B):c.5637dup (p.Ser1880fs) rs2137589783
NM_001353345.2(SETD1B):c.5653C>T (p.Arg1885Trp) rs1876920040
NM_001353345.2(SETD1B):c.5686A>G (p.Lys1896Glu)
NM_001353345.2(SETD1B):c.5796_5797dup (p.Ile1933fs) rs2500260535
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.5860T>C (p.Cys1954Arg) rs2500260789

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