List of variants reported as pathogenic for electroclinical syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)	rs118192236	0.00001
NM_000814.6(GABRB3):c.929T>G (p.Leu310Arg)
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)	rs587784438
NM_001134407.3(GRIN2A):c.1007+1G>A	rs397518465
NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser)	rs2042447850
NM_001271.4(CHD2):c.1196del (p.Pro399fs)
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)	rs267608643
NM_001323289.2(CDKL5):c.404-2A>G	rs587783080
NM_001323289.2(CDKL5):c.456_457del (p.Cys152_Asp153delinsTer)
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter)	rs1555951146
NM_004408.4(DNM1):c.1335+1638G>A	rs747079285
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)	rs118192226
NM_172107.4(KCNQ2):c.1525+1G>A	rs118192228
NM_172107.4(KCNQ2):c.195_198del (p.Lys66fs)
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys)	rs2113325423

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