List of variants reported as pathogenic for childhood-onset epilepsy syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000100.4(CSTB):c.67-1G>C	rs147484110	0.00027
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)	rs387906881	0.00009
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	rs104893950	0.00003
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter)	rs768241563	0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter)	rs886041078	0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)	rs121909118	0.00001
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His)	rs727502818
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter)	rs886039255
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter)	rs2141839141
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter)	rs1057518128
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val)	rs1553689859
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)	rs760270633
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)	rs727502773
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)	rs397515407

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