List of variants studied for developmental and epileptic encephalopathy, 26 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1
NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter)	rs1984251749
NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys)	rs1569017123
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu)	rs1569017114
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)	rs1984243311
NM_004975.4(KCNB1):c.2130del (p.Cys710fs)
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys)	rs202170806
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)	rs1555889130
NM_004975.4(KCNB1):c.917G>A (p.Arg306His)	rs1984262011
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His)	rs1555889127
NM_004975.4(KCNB1):c.950T>C (p.Leu317Pro)

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