ClinVar Miner

List of variants studied for Intellectual developmental disorder with seizures and language delay by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 6q27(chr6:169830713-171022896)x1
NM_001353345.2(SETD1B):c.22dup (p.His8fs) rs777278685
NM_001353345.2(SETD1B):c.2338C>T (p.Gln780Ter)
NM_001353345.2(SETD1B):c.293_294insAACGTGGG (p.Pro99fs) rs2137544133
NM_001353345.2(SETD1B):c.3595del (p.Glu1199fs) rs2500221145
NM_001353345.2(SETD1B):c.5107C>T (p.Arg1703Ter)
NM_001353345.2(SETD1B):c.5408G>T (p.Arg1803Leu) rs2137589071

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