ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 38; Developmental and epileptic encephalopathy, 33 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001958.5(EEF1A2):c.183C>T (p.Asp61=) rs147929770 0.00008
NM_001958.5(EEF1A2):c.1286T>G (p.Met429Arg)
NM_001958.5(EEF1A2):c.532A>T (p.Ile178Phe) rs765056369

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