ClinVar Miner

List of variants in gene KCNB1 studied for Epileptic encephalopathy

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe) rs1569017205
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg) rs1569017174
NM_004975.4(KCNB1):c.1130C>A (p.Thr377Asn) rs1569017148
NM_004975.4(KCNB1):c.1132G>C (p.Val378Leu) rs1569017143
NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys) rs1569017123
NM_004975.4(KCNB1):c.1144G>A (p.Asp382Asn) rs1555889090
NM_004975.4(KCNB1):c.1180G>A (p.Gly394Arg) rs1569017073
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg) rs1569017045
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu) rs1569017015
NM_004975.4(KCNB1):c.128A>G (p.Glu43Gly) rs1568658507
NM_004975.4(KCNB1):c.629C>G (p.Thr210Arg) rs1555889162
NM_004975.4(KCNB1):c.857del (p.Val286fs) rs1569017337
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.968C>T (p.Thr323Ile) rs1569017257
NM_004975.4(KCNB1):c.984C>G (p.Tyr328Ter) rs1179351306

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