List of variants studied for Developmental and epileptic encephalopathy, 11 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.3623A>G (p.Asn1208Ser)	rs781032326	0.00001
NM_001040142.2(SCN2A):c.1318G>T (p.Glu440Ter)	rs1553569023
NM_001040142.2(SCN2A):c.2189A>T (p.Tyr730Phe)	rs2467961623
NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His)	rs1057518048
NM_001040142.2(SCN2A):c.3606T>G (p.Tyr1202Ter)	rs2468070549
NM_001040142.2(SCN2A):c.3956G>C (p.Arg1319Pro)	rs121917753
NM_001040142.2(SCN2A):c.4579_4602del (p.Phe1527_Asp1534del)	rs2105398203
NM_001040142.2(SCN2A):c.4903C>T (p.Arg1635Ter)	rs1064794730
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)	rs1060503101
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)	rs2105403536
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter)	rs796053166
NM_001040142.2(SCN2A):c.5750G>A (p.Arg1917Lys)	rs2105403810
NM_001040142.2(SCN2A):c.606A>G (p.Ala202=)	rs2105244839
NM_001040142.2(SCN2A):c.718G>T (p.Ala240Ser)	rs1064795014
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp)	rs1553567473

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