ClinVar Miner

List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 26

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Total variants: 38
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) rs587777848
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe) rs1569017205
NM_004975.4(KCNB1):c.1051T>G (p.Phe351Val)
NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu)
NM_004975.4(KCNB1):c.1107G>A (p.Trp369Ter) rs2146813797
NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter) rs1984251749
NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) rs587777849
NM_004975.4(KCNB1):c.1123A>G (p.Met375Val) rs1984250919
NM_004975.4(KCNB1):c.1135G>A (p.Gly379Arg) rs587777850
NM_004975.4(KCNB1):c.1136G>T (p.Gly379Val) rs1984249721
NM_004975.4(KCNB1):c.1141G>A (p.Gly381Arg)
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) rs1569017114
NM_004975.4(KCNB1):c.1169G>A (p.Gly390Glu) rs2146813695
NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg) rs1569017045
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) rs1601071085
NM_004975.4(KCNB1):c.1229C>T (p.Pro410Leu) rs2146813598
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu) rs1984242860
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu) rs1569017015
NM_004975.4(KCNB1):c.1249T>C (p.Ser417Pro) rs2146813554
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.1503dup (p.Lys502Ter) rs2146813259
NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter) rs1601070652
NM_004975.4(KCNB1):c.629C>A (p.Thr210Lys) rs1555889162
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.682C>T (p.Gln228Ter)
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
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.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe) rs1984259606
NM_004975.4(KCNB1):c.959T>C (p.Leu320Pro) rs2146813954
NM_004975.4(KCNB1):c.961G>A (p.Gly321Ser) rs2146813951
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_004975.4(KCNB1):c.988G>C (p.Glu330Gln)

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