ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 16 by Center for Molecular Medicine, Children’s Hospital of Fudan University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_001199107.2(TBC1D24):c.1652G>A (p.Trp551Ter) rs2065788445

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