List of variants reported as pathogenic for childhood-onset epilepsy syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter)	rs370985865	0.00001
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)	rs28931591
NM_000814.6(GABRB3):c.929T>G (p.Leu310Arg)
NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs)	rs886037960
NM_001134407.3(GRIN2A):c.1007+1G>A	rs397518465
NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser)	rs2042447850
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter)	rs757511744
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter)	rs886039261
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter)	rs1569067939
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
NM_003042.4(SLC6A1):c.1607del (p.Val536fs)
NM_003042.4(SLC6A1):c.235G>A (p.Gly79Arg)	rs1085307804
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)	rs1553689696
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys)	rs866242631
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter)	rs750811871
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)	rs1057516099

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