List of variants studied for childhood-onset epilepsy syndrome by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001134407.3(GRIN2A):c.964G>A (p.Gly322Arg)	rs374637415	0.00001
NM_001077350.3(NPRL3):c.1230_1231del (p.Cys411fs)	rs1898687282
NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter)	rs1596522356
NM_001134407.3(GRIN2A):c.4261G>T (p.Asp1421Tyr)	rs1567275051
NM_001242896.3(DEPDC5):c.1277_1280del (p.Ala426fs)	rs1568963062
NM_001242896.3(DEPDC5):c.2694_2703delinsGGACA (p.Asp898fs)	rs1569083500
NM_001271.4(CHD2):c.1387C>T (p.Gln463Ter)	rs2141802487
NM_001271.4(CHD2):c.2765A>C (p.Glu922Ala)
NM_001271.4(CHD2):c.3640G>A (p.Gly1214Arg)	rs1596446980
NM_003042.4(SLC6A1):c.307T>C (p.Ser103Pro)	rs1574892346
NM_003042.4(SLC6A1):c.341_344delinsCC (p.Gly114fs)
NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser)	rs1554774575
NM_004408.4(DNM1):c.646G>A (p.Ala216Thr)
NM_005045.4(RELN):c.4882G>C (p.Val1628Leu)	rs1436133395
NM_006545.5(NPRL2):c.233G>T (p.Arg78Leu)	rs1559857717

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