List of variants studied for epilepsy by Department of Developmental Neurology, Medical University of Gdańsk

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_016373.4(WWOX):c.946G>C (p.Val316Leu)	rs201941494	0.00014
NM_001365999.1(SZT2):c.4540C>T (p.Arg1514Trp)	rs771790051	0.00004
NM_004519.4(KCNQ3):c.1520C>G (p.Pro507Arg)	rs370333805	0.00001
NM_001032221.6(STXBP1):c.169+1G>A	rs587776641
NM_001134407.3(GRIN2A):c.1329-1G>T
NM_001165963.4(SCN1A):c.2508C>A (p.Asp836Glu)
NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser)	rs121918788
NM_001165963.4(SCN1A):c.3824G>T (p.Gly1275Val)
NM_001165963.4(SCN1A):c.4708_4709del (p.Thr1570fs)
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile)	rs2147539327
NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs)
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter)	rs864309548
NM_001365999.1(SZT2):c.1444C>T (p.Arg482Cys)
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)	rs1553689696
NM_004519.4(KCNQ3):c.1090C>T (p.Arg364Cys)	rs1459374430
NM_004974.4(KCNA2):c.1220C>G (p.Pro407Arg)	rs2101396301
NM_006772.3(SYNGAP1):c.457del (p.Thr153fs)
NM_198904.4(GABRG2):c.947C>A (p.Thr316Asn)

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