ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 54 by New York Genome Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_031844.3(HNRNPU):c.1189G>A (p.Gly397Arg) rs1680748404 0.00001
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser) rs1360721056 0.00001
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) rs754216321

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