List of variants reported as pathogenic for epilepsy by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.325+5G>A
NM_001040142.2(SCN2A):c.1175del (p.Leu392fs)
NM_001077350.3(NPRL3):c.1230_1231del (p.Cys411fs)	rs1898687282
NM_001165963.4(SCN1A):c.5741A>C (p.Gln1914Pro)
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter)	rs1555985820
NM_001271.4(CHD2):c.1387C>T (p.Gln463Ter)	rs2141802487
NM_003042.4(SLC6A1):c.341_344delinsCC (p.Gly114fs)
NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser)	rs1554774575
NM_005249.5(FOXG1):c.632T>C (p.Ile211Thr)	rs1594383648
NM_006516.4(SLC2A1):c.299dup (p.Asn100fs)	rs1557646673
NM_006772.3(SYNGAP1):c.1603dup (p.Ser535fs)
NM_006772.3(SYNGAP1):c.359_381del (p.Gly120fs)	rs1777174302
NM_014795.4(ZEB2):c.2211_2214dup (p.Ile739fs)	rs1553961585
NM_014795.4(ZEB2):c.2303del (p.Asn768fs)	rs1703267358
NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs)	rs1555850403
NM_172107.4(KCNQ2):c.601C>G (p.Arg201Gly)

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