List of variants reported as pathogenic for adolescent-onset epilepsy syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_005097.4(LGI1):c.988C>T (p.Arg330Ter)	rs1027289865	0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)	rs397515405	0.00001
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe)	rs121909580
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met)	rs74315291
NM_001077350.3(NPRL3):c.119-1G>C	rs2141981312
NM_001077350.3(NPRL3):c.189-1G>A	rs1900184374
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs)	rs1567139896
NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter)	rs2141920098
NM_001077350.3:c.(118+1_119-1)_(188+1_189-1)del
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln)	rs1555491654
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs)	rs2044762657
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs)	rs1601970168
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter)	rs1057519107
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter)	rs1569067939
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter)	rs886039268
NM_001242896.3(DEPDC5):c.767+1G>A	rs2148514247
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs)	rs1443687532

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