ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 13 by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673 0.00003
NM_001330260.2(SCN8A):c.3307T>A (p.Ser1103Thr) rs747193336 0.00001
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.4408C>A (p.Gln1470Lys) rs1555228770
NM_001330260.2(SCN8A):c.5594T>C (p.Leu1865Pro) rs2540335641
NM_001330260.2(SCN8A):c.761T>G (p.Val254Gly) rs2138735599

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