ClinVar Miner

List of variants studied for Intellectual developmental disorder with seizures and language delay by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001353345.2(SETD1B):c.89G>A (p.Arg30Lys) rs752819288 0.00001
NM_001353345.2(SETD1B):c.214del (p.Arg72fs) rs2500165101

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