List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 1 by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs)	rs2105983330
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)	rs794726730
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile)	rs2080906453
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs)	rs796052657
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn)	rs2082232988

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