List of variants reported as pathogenic for electroclinical syndrome by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys)	rs1445802934
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs)	rs2105983330
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)	rs794726730
NM_001271.4(CHD2):c.1153+3_1153+19del	rs2141791104
NM_001271.4(CHD2):c.2767dup (p.Glu923fs)	rs2141844219
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)	rs267608643
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
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys)	rs796052626
NM_172107.4(KCNQ2):c.807G>T (p.Trp269Cys)	rs118192208

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