List of variants reported as likely pathogenic for Epileptic encephalopathy by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu)	rs199624315	0.00013
NM_000814.6(GABRB3):c.851T>G (p.Leu284Arg)	rs1595440453
NM_001032221.6(STXBP1):c.1216C>G (p.Arg406Gly)	rs796053367
NM_002397.5(MEF2C):c.65C>G (p.Thr22Arg)	rs1580990072
NM_005859.5(PURA):c.98del (p.Gly33fs)
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)	rs780680047
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg)	rs886041715
NM_152269.5(MTRFR):c.248del (p.Val83fs)	rs587776508
NM_152296.5(ATP1A3):c.1048_1053del (p.Asn350_Leu351del)	rs1599719527
NM_153033.5(KCTD7):c.340G>T (p.Gly114Trp)	rs1584399108
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs)	rs1555850842
NM_172107.4(KCNQ2):c.590T>C (p.Leu197Pro)	rs1600786071
NM_177550.5(SLC13A5):c.1451del (p.Gly484fs)	rs1597653264
NM_177550.5(SLC13A5):c.332T>G (p.Leu111Arg)	rs1597676610

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