ClinVar Miner

List of variants studied for Intellectual developmental disorder with seizures and language delay by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001353345.2(SETD1B):c.1371dup (p.Asp458fs) rs2137552415
NM_001353345.2(SETD1B):c.2258_2264del (p.Leu752_Phe753insTer) rs1876191880

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