List of variants studied for developmental and epileptic encephalopathy by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.5726C>T (p.Ala1909Val)	rs772819993	0.00001
NM_001242896.3(DEPDC5):c.1460G>A (p.Arg487Gln)	rs775080915	0.00001
NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp)	rs574115531	0.00001
NM_002641.4(PIGA):c.247C>G (p.Leu83Val)	rs1335237092	0.00001
NC_000016.10:c.(605+1_606-1)_(1056+1_1057-1)dup
NM_000814.6(GABRB3):c.1280A>G (p.His427Arg)
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr)	rs796053365
NM_001040142.2(SCN2A):c.1154del (p.Phe385fs)	rs879253767
NM_001040142.2(SCN2A):c.1552G>T (p.Glu518Ter)	rs1553569732
NM_001040142.2(SCN2A):c.5311T>A (p.Tyr1771Asn)
NM_001100913.3(PACS2):c.369C>A (p.Asn123Lys)	rs1435095726
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4471G>A (p.Val1491Ile)
NM_001127222.2(CACNA1A):c.6901C>G (p.Pro2301Ala)	rs1351010453
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu)	rs2105868295
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro)	rs796052957
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp)	rs1057518671
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	rs121917984
NM_001205293.3(CACNA1E):c.6248G>A (p.Arg2083Gln)	rs758936777
NM_001271.4(CHD2):c.2324_2328del (p.Glu775fs)
NM_015267.4(CUX2):c.2953C>A (p.Pro985Thr)
NM_021072.4(HCN1):c.928C>T (p.His310Tyr)	rs2111627182
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
NM_203446.3(SYNJ1):c.3208C>T (p.Arg1070Ter)	rs1373545506

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