ClinVar Miner

List of variants in gene KCNB1 reported as likely pathogenic

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.4(KCNB1):c.1040G>T (p.Ser347Ile) rs2146813885
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) rs587777848
NM_004975.4(KCNB1):c.1057G>A (p.Glu353Lys) rs1057524688
NM_004975.4(KCNB1):c.1076C>T (p.Thr359Ile) rs2146813832
NM_004975.4(KCNB1):c.1088del (p.Ser363fs) rs1555889103
NM_004975.4(KCNB1):c.1095del (p.Ala366fs) rs1601071350
NM_004975.4(KCNB1):c.1100C>T (p.Ser367Phe) rs1984252463
NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu)
NM_004975.4(KCNB1):c.1115C>A (p.Thr372Asn) rs1569017160
NM_004975.4(KCNB1):c.1133T>G (p.Val378Gly)
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu) rs1984249721
NM_004975.4(KCNB1):c.1144G>A (p.Asp382Asn) rs1555889090
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val) rs1984248540
NM_004975.4(KCNB1):c.1152C>A (p.Tyr384Ter)
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) rs1060499592
NM_004975.4(KCNB1):c.1180G>A (p.Gly394Arg) rs1569017073
NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu)
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1184G>A (p.Gly395Glu) rs2146813670
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr) rs1555889084
NM_004975.4(KCNB1):c.1190G>T (p.Cys397Phe) rs1555889084
NM_004975.4(KCNB1):c.1202G>C (p.Gly401Ala)
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) rs1601071099
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro) rs2146813611
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) rs1601071085
NM_004975.4(KCNB1):c.1226T>C (p.Ile409Thr) rs1569017025
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.1240A>G (p.Asn414Asp) rs1601071071
NM_004975.4(KCNB1):c.1265A>C (p.Glu422Ala) rs1064795048
NM_004975.4(KCNB1):c.128A>G (p.Glu43Gly) rs1568658507
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro) rs2146813509
NM_004975.4(KCNB1):c.1320_1339dup (p.Ser447Ter) rs1601070913
NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter) rs1984233764
NM_004975.4(KCNB1):c.1489G>T (p.Glu497Ter) rs1569016820
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) rs781663444
NM_004975.4(KCNB1):c.1769G>A (p.Ser590Asn) rs2146812849
NM_004975.4(KCNB1):c.587T>G (p.Ile196Ser)
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) rs1601072041
NM_004975.4(KCNB1):c.605C>G (p.Ser202Cys) rs1060499607
NM_004975.4(KCNB1):c.623T>G (p.Leu208Arg)
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys) rs1984276555
NM_004975.4(KCNB1):c.628A>G (p.Thr210Ala) rs2146814335
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.643C>T (p.Gln215Ter) rs1601071971
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg) rs1601071839
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser) rs1601071747
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys) rs1601071708
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.907C>T (p.Arg303Ter) rs1391326211
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln) rs1057518621
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.919A>G (p.Ile307Val) rs1984261678
NM_004975.4(KCNB1):c.931G>A (p.Ala311Thr) rs2146813980
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.935G>C (p.Arg312Pro)
NM_004975.4(KCNB1):c.938A>G (p.His313Arg) rs1057521887
NM_004975.4(KCNB1):c.940T>G (p.Ser314Ala) rs1984260160
NM_004975.4(KCNB1):c.949_963del (p.Leu317_Gly321del)
NM_004975.4(KCNB1):c.956C>A (p.Ser319Tyr) rs1984259606
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe) rs1984259606
NM_004975.4(KCNB1):c.968C>T (p.Thr323Ile) rs1569017257
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp) rs1276378675
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_004975.4(KCNB1):c.988G>A (p.Glu330Lys) rs1555889114
NM_004975.4(KCNB1):c.990G>C (p.Glu330Asp) rs1131691489
NM_004975.4(KCNB1):c.995G>T (p.Gly332Val) rs1555889110

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