List of variants studied for epilepsy by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg)	rs1064794797
NM_001032221.6(STXBP1):c.325+2_325+3del	rs1554776853
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala)	rs1553181280
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro)	rs1555321361
NM_006772.3(SYNGAP1):c.1205T>G (p.Leu402Arg)	rs1554121265
NM_006772.3(SYNGAP1):c.1631G>C (p.Arg544Pro)	rs1480178032
NM_006772.3(SYNGAP1):c.484C>T (p.Arg162Cys)	rs1554120589
NM_014795.4(ZEB2):c.71dup (p.Asn24fs)	rs1553971826
NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val)	rs1057516081

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