List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 11 by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.4343_4346dup (p.Met1449fs)	rs2468126385
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)	rs796053157
NM_001040142.2(SCN2A):c.4954G>C (p.Ala1652Pro)	rs2468157766
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)	rs796053162
NM_001040142.2(SCN2A):c.605+1G>A	rs796053171

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