List of variants reported as pathogenic for electroclinical syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter)	rs746060762
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)	rs794727152
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys)	rs796053197
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter)	rs2141839141
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter)	rs1057518128
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)	rs267608395
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)	rs760270633
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	rs796052676
NM_145239.3(PRRT2):c.649del (p.Arg217fs)	rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)	rs796052653
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln)	rs118192200
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)	rs864321707

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