ClinVar Miner

List of variants in gene KCNB1 reported as likely benign for Developmental and epileptic encephalopathy, 26

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 272
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=) rs115929614 0.00239
NM_004975.4(KCNB1):c.1734G>C (p.Gly578=) rs145456546 0.00081
NM_004975.4(KCNB1):c.2136G>A (p.Thr712=) rs139458439 0.00057
NM_004975.4(KCNB1):c.2324C>A (p.Pro775His) rs530927636 0.00025
NM_004975.4(KCNB1):c.51G>A (p.Pro17=) rs772184358 0.00022
NM_004975.4(KCNB1):c.2520C>T (p.Asp840=) rs372147544 0.00017
NM_004975.4(KCNB1):c.1551G>A (p.Ser517=) rs377030406 0.00014
NM_004975.4(KCNB1):c.2364G>A (p.Thr788=) rs112132596 0.00012
NM_004975.4(KCNB1):c.630G>A (p.Thr210=) rs150723418 0.00011
NM_004975.4(KCNB1):c.2105C>T (p.Ala702Val) rs144379782 0.00010
NM_004975.4(KCNB1):c.1071C>T (p.Asp357=) rs199964916 0.00009
NM_004975.4(KCNB1):c.1305T>C (p.Ala435=) rs201403239 0.00009
NM_004975.4(KCNB1):c.2115C>T (p.Val705=) rs199910304 0.00009
NM_004975.4(KCNB1):c.2472C>T (p.Gly824=) rs375177375 0.00009
NM_004975.4(KCNB1):c.2091C>T (p.Asn697=) rs746382408 0.00007
NM_004975.4(KCNB1):c.1905T>C (p.Gly635=) rs117166054 0.00006
NM_004975.4(KCNB1):c.2327A>G (p.Lys776Arg) rs756982426 0.00005
NM_004975.4(KCNB1):c.39C>T (p.Thr13=) rs775536644 0.00005
NM_004975.4(KCNB1):c.504C>T (p.Cys168=) rs139960830 0.00005
NM_004975.4(KCNB1):c.855C>T (p.Ser285=) rs367938880 0.00005
NM_004975.4(KCNB1):c.1336G>A (p.Val446Ile) rs776968332 0.00004
NM_004975.4(KCNB1):c.1388T>C (p.Ile463Thr) rs145421532 0.00004
NM_004975.4(KCNB1):c.1622C>A (p.Ser541Tyr) rs374460751 0.00004
NM_004975.4(KCNB1):c.1879C>T (p.Arg627Trp) rs554351105 0.00004
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp) rs779379680 0.00004
NM_004975.4(KCNB1):c.2093G>A (p.Arg698Gln) rs1449919002 0.00004
NM_004975.4(KCNB1):c.210C>G (p.Leu70=) rs1460995367 0.00004
NM_004975.4(KCNB1):c.2376G>A (p.Ser792=) rs750105922 0.00004
NM_004975.4(KCNB1):c.2456C>T (p.Ala819Val) rs777645076 0.00004
NM_004975.4(KCNB1):c.2561G>A (p.Arg854Gln) rs764648709 0.00004
NM_004975.4(KCNB1):c.568-5C>T rs185995580 0.00004
NM_004975.4(KCNB1):c.651C>T (p.Leu217=) rs537777787 0.00004
NM_004975.4(KCNB1):c.840C>T (p.Thr280=) rs748523037 0.00004
NM_004975.4(KCNB1):c.114G>T (p.Gly38=) rs1233894851 0.00003
NM_004975.4(KCNB1):c.168G>T (p.Arg56=) rs780529809 0.00003
NM_004975.4(KCNB1):c.2116G>A (p.Ala706Thr) rs779750227 0.00003
NM_004975.4(KCNB1):c.598G>A (p.Val200Ile) rs748573940 0.00003
NM_004975.4(KCNB1):c.1167G>A (p.Leu389=) rs771768169 0.00002
NM_004975.4(KCNB1):c.1207C>T (p.Leu403=) rs749215518 0.00002
NM_004975.4(KCNB1):c.1335C>T (p.Ile445=) rs368667514 0.00002
NM_004975.4(KCNB1):c.1387A>G (p.Ile463Val) rs777560545 0.00002
NM_004975.4(KCNB1):c.1494C>A (p.Thr498=) rs1483168827 0.00002
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln) rs753575587 0.00002
NM_004975.4(KCNB1):c.2058C>T (p.Pro686=) rs908785527 0.00002
NM_004975.4(KCNB1):c.2225C>A (p.Thr742Lys) rs1218107028 0.00002
NM_004975.4(KCNB1):c.2271C>T (p.Asp757=) rs190726852 0.00002
NM_004975.4(KCNB1):c.2351C>T (p.Pro784Leu) rs766596568 0.00002
NM_004975.4(KCNB1):c.2478T>C (p.Ser826=) rs554768897 0.00002
NM_004975.4(KCNB1):c.2516C>T (p.Pro839Leu) rs761070687 0.00002
NM_004975.4(KCNB1):c.513G>A (p.Lys171=) rs762797906 0.00002
NM_004975.4(KCNB1):c.567+11G>C rs772220866 0.00002
NM_004975.4(KCNB1):c.568-20C>T rs934317402 0.00002
NM_004975.4(KCNB1):c.568-7C>T rs958924629 0.00002
NM_004975.4(KCNB1):c.568-9T>C rs771401083 0.00002
NM_004975.4(KCNB1):c.693C>T (p.His231=) rs765195036 0.00002
NM_004975.4(KCNB1):c.96G>A (p.Arg32=) rs781213174 0.00002
NM_004975.4(KCNB1):c.9G>A (p.Ala3=) rs768300586 0.00002
NM_004975.4(KCNB1):c.1023C>T (p.Gly341=) rs763113494 0.00001
NM_004975.4(KCNB1):c.1047C>A (p.Val349=) rs773495969 0.00001
NM_004975.4(KCNB1):c.1098C>T (p.Ala366=) rs777002170 0.00001
NM_004975.4(KCNB1):c.1116C>G (p.Thr372=) rs1347667767 0.00001
NM_004975.4(KCNB1):c.1128T>A (p.Thr376=) rs375581882 0.00001
NM_004975.4(KCNB1):c.117G>A (p.Gly39=) rs368376649 0.00001
NM_004975.4(KCNB1):c.1294C>T (p.Arg432Trp) rs752596402 0.00001
NM_004975.4(KCNB1):c.1299A>G (p.Arg433=) rs758700383 0.00001
NM_004975.4(KCNB1):c.1332C>T (p.Ser444=) rs1178240064 0.00001
NM_004975.4(KCNB1):c.1410G>A (p.Glu470=) rs1214032172 0.00001
NM_004975.4(KCNB1):c.1444C>A (p.His482Asn) rs1171133807 0.00001
NM_004975.4(KCNB1):c.1506G>T (p.Lys502Asn) rs761247010 0.00001
NM_004975.4(KCNB1):c.1723C>T (p.Arg575Cys) rs947355756 0.00001
NM_004975.4(KCNB1):c.1862C>T (p.Ala621Val) rs770069345 0.00001
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr) rs1447311755 0.00001
NM_004975.4(KCNB1):c.1950T>C (p.Ser650=) rs767412426 0.00001
NM_004975.4(KCNB1):c.1962C>T (p.Ile654=) rs1226209770 0.00001
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys) rs769948178 0.00001
NM_004975.4(KCNB1):c.1968C>T (p.Ser656=) rs751330439 0.00001
NM_004975.4(KCNB1):c.2049A>C (p.Pro683=) rs751308084 0.00001
NM_004975.4(KCNB1):c.204G>A (p.Ser68=) rs1202077661 0.00001
NM_004975.4(KCNB1):c.2055C>A (p.Leu685=) rs200849612 0.00001
NM_004975.4(KCNB1):c.2127G>A (p.Glu709=) rs750280554 0.00001
NM_004975.4(KCNB1):c.2201C>A (p.Pro734His) rs780940515 0.00001
NM_004975.4(KCNB1):c.2322C>T (p.Pro774=) rs1471605520 0.00001
NM_004975.4(KCNB1):c.2345C>T (p.Thr782Ile) rs751639377 0.00001
NM_004975.4(KCNB1):c.2352G>A (p.Pro784=) rs763162952 0.00001
NM_004975.4(KCNB1):c.2425T>C (p.Leu809=) rs745432739 0.00001
NM_004975.4(KCNB1):c.2457A>G (p.Ala819=) rs755210446 0.00001
NM_004975.4(KCNB1):c.2524C>T (p.Arg842Cys) rs758964585 0.00001
NM_004975.4(KCNB1):c.27C>A (p.Gly9=) rs760648829 0.00001
NM_004975.4(KCNB1):c.300C>G (p.Arg100=) rs760237871 0.00001
NM_004975.4(KCNB1):c.411C>T (p.Tyr137=) rs747090668 0.00001
NM_004975.4(KCNB1):c.492T>C (p.Asp164=) rs1392771017 0.00001
NM_004975.4(KCNB1):c.4C>T (p.Pro2Ser) rs1054441474 0.00001
NM_004975.4(KCNB1):c.54C>T (p.Pro18=) rs1403444378 0.00001
NM_004975.4(KCNB1):c.567+3G>A rs752873604 0.00001
NM_004975.4(KCNB1):c.660C>T (p.Phe220=) rs751017425 0.00001
NM_004975.4(KCNB1):c.702C>T (p.Ala234=) rs753634361 0.00001
NM_004975.4(KCNB1):c.711C>T (p.Ile237=) rs1020438851 0.00001
NM_004975.4(KCNB1):c.738G>A (p.Leu246=) rs1336511502 0.00001
NM_004975.4(KCNB1):c.81G>A (p.Lys27=) rs910155179 0.00001
NM_004975.4(KCNB1):c.84G>C (p.Ala28=) rs748425302 0.00001
NM_004975.4(KCNB1):c.882C>T (p.Arg294=) rs757868422 0.00001
NM_004975.4(KCNB1):c.900C>A (p.Arg300=) rs1057523982 0.00001
NM_004975.4(KCNB1):c.903C>T (p.Ile301=) rs1441724609 0.00001
NM_004975.4(KCNB1):c.954G>A (p.Gln318=) rs368624252 0.00001
NM_004975.4(KCNB1):c.974G>A (p.Arg325Gln) rs759765009 0.00001
NM_004975.4(KCNB1):c.984C>T (p.Tyr328=) rs1179351306 0.00001
NM_004975.4(KCNB1):c.99C>A (p.Val33=) rs932309335 0.00001
NM_004975.4(KCNB1):c.1000C>T (p.Leu334Phe)
NM_004975.4(KCNB1):c.1002C>G (p.Leu334=)
NM_004975.4(KCNB1):c.102C>T (p.Arg34=) rs2122803849
NM_004975.4(KCNB1):c.1062G>A (p.Lys354=)
NM_004975.4(KCNB1):c.1080G>A (p.Lys360=)
NM_004975.4(KCNB1):c.108C>T (p.Asn36=)
NM_004975.4(KCNB1):c.1119C>T (p.Ile373=) rs2146813780
NM_004975.4(KCNB1):c.1137G>A (p.Gly379=) rs372561609
NM_004975.4(KCNB1):c.1143A>T (p.Gly381=) rs1569017109
NM_004975.4(KCNB1):c.1146C>T (p.Asp382=)
NM_004975.4(KCNB1):c.1155C>T (p.Pro385=)
NM_004975.4(KCNB1):c.1161T>C (p.Thr387=) rs1984247753
NM_004975.4(KCNB1):c.1170G>A (p.Gly390=)
NM_004975.4(KCNB1):c.1206C>G (p.Val402=) rs2146813631
NM_004975.4(KCNB1):c.1218T>C (p.Ala406=)
NM_004975.4(KCNB1):c.1236C>T (p.Ile412=)
NM_004975.4(KCNB1):c.1288A>G (p.Ile430Val)
NM_004975.4(KCNB1):c.12C>T (p.Gly4=)
NM_004975.4(KCNB1):c.1338A>T (p.Val446=) rs2146813471
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr) rs1984239884
NM_004975.4(KCNB1):c.1344G>A (p.Met448Ile) rs1984239766
NM_004975.4(KCNB1):c.1347C>T (p.Asn449=)
NM_004975.4(KCNB1):c.1393G>A (p.Val465Ile) rs1294696493
NM_004975.4(KCNB1):c.1401A>T (p.Lys467Asn)
NM_004975.4(KCNB1):c.1418G>A (p.Gly473Asp)
NM_004975.4(KCNB1):c.1485G>A (p.Leu495=)
NM_004975.4(KCNB1):c.1488T>G (p.Ser496=)
NM_004975.4(KCNB1):c.1518C>G (p.Thr506=)
NM_004975.4(KCNB1):c.1545C>T (p.Ala515=) rs2146813194
NM_004975.4(KCNB1):c.154C>T (p.Leu52=)
NM_004975.4(KCNB1):c.1566G>T (p.Gln522His)
NM_004975.4(KCNB1):c.1569C>T (p.His523=)
NM_004975.4(KCNB1):c.1575C>T (p.Asn525=)
NM_004975.4(KCNB1):c.1581G>A (p.Gln527=)
NM_004975.4(KCNB1):c.1593C>T (p.Asp531=)
NM_004975.4(KCNB1):c.1597T>C (p.Tyr533His) rs1984228232
NM_004975.4(KCNB1):c.1617C>T (p.Thr539=) rs2146813087
NM_004975.4(KCNB1):c.1629C>T (p.Pro543=)
NM_004975.4(KCNB1):c.1641C>T (p.Thr547=) rs1490389656
NM_004975.4(KCNB1):c.1692T>C (p.Ser564=) rs2146812969
NM_004975.4(KCNB1):c.1704C>G (p.Pro568=) rs539550218
NM_004975.4(KCNB1):c.1704C>T (p.Pro568=) rs539550218
NM_004975.4(KCNB1):c.1738A>G (p.Ile580Val)
NM_004975.4(KCNB1):c.1747C>A (p.Arg583=)
NM_004975.4(KCNB1):c.1748G>A (p.Arg583Gln)
NM_004975.4(KCNB1):c.1800G>A (p.Glu600=) rs1290919811
NM_004975.4(KCNB1):c.1839C>T (p.Pro613=)
NM_004975.4(KCNB1):c.183C>T (p.Arg61=)
NM_004975.4(KCNB1):c.1851G>A (p.Gly617=) rs2146812770
NM_004975.4(KCNB1):c.1863C>T (p.Ala621=) rs2146812733
NM_004975.4(KCNB1):c.1869A>G (p.Glu623=)
NM_004975.4(KCNB1):c.1879_1880delinsTT (p.Arg627Leu) rs2146812716
NM_004975.4(KCNB1):c.1883G>A (p.Gly628Glu)
NM_004975.4(KCNB1):c.1891G>A (p.Gly631Ser)
NM_004975.4(KCNB1):c.1891G>T (p.Gly631Cys) rs1433173706
NM_004975.4(KCNB1):c.1896C>T (p.Ala632=) rs1420669551
NM_004975.4(KCNB1):c.1912G>T (p.Val638Leu) rs756972062
NM_004975.4(KCNB1):c.1926C>T (p.Pro642=)
NM_004975.4(KCNB1):c.1951A>G (p.Ser651Gly)
NM_004975.4(KCNB1):c.1971del (p.Lys658fs)
NM_004975.4(KCNB1):c.1973A>G (p.Lys658Arg)
NM_004975.4(KCNB1):c.2008C>T (p.Arg670Ter) rs1984206797
NM_004975.4(KCNB1):c.203C>A (p.Ser68Ter)
NM_004975.4(KCNB1):c.2040C>T (p.Asp680=)
NM_004975.4(KCNB1):c.2067G>T (p.Gly689=)
NM_004975.4(KCNB1):c.2096G>A (p.Gly699Glu)
NM_004975.4(KCNB1):c.2097G>T (p.Gly699=) rs749718924
NM_004975.4(KCNB1):c.2103T>C (p.Ala701=)
NM_004975.4(KCNB1):c.2116G>T (p.Ala706Ser) rs779750227
NM_004975.4(KCNB1):c.2118T>C (p.Ala706=) rs2146812300
NM_004975.4(KCNB1):c.2122_2126dup (p.Glu709fs)
NM_004975.4(KCNB1):c.2124G>A (p.Leu708=) rs1207155153
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
NM_004975.4(KCNB1):c.2139T>G (p.Leu713=)
NM_004975.4(KCNB1):c.2151T>C (p.Ala717=) rs2146812219
NM_004975.4(KCNB1):c.2201C>G (p.Pro734Arg)
NM_004975.4(KCNB1):c.2201C>T (p.Pro734Leu)
NM_004975.4(KCNB1):c.2202C>A (p.Pro734=)
NM_004975.4(KCNB1):c.2206C>A (p.Arg736=)
NM_004975.4(KCNB1):c.222T>C (p.Asp74=)
NM_004975.4(KCNB1):c.2235G>A (p.Ala745=)
NM_004975.4(KCNB1):c.2235G>T (p.Ala745=)
NM_004975.4(KCNB1):c.2238C>T (p.Phe746=)
NM_004975.4(KCNB1):c.2250G>C (p.Ala750=) rs368736609
NM_004975.4(KCNB1):c.2267T>C (p.Ile756Thr) rs1239521037
NM_004975.4(KCNB1):c.2274A>T (p.Ala758=)
NM_004975.4(KCNB1):c.228C>T (p.Tyr76=)
NM_004975.4(KCNB1):c.2298G>C (p.Leu766=)
NM_004975.4(KCNB1):c.2312A>T (p.Asp771Val) rs1304300872
NM_004975.4(KCNB1):c.2313C>T (p.Asp771=)
NM_004975.4(KCNB1):c.2319C>T (p.Ser773=)
NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg) rs530927636
NM_004975.4(KCNB1):c.2324C>T (p.Pro775Leu)
NM_004975.4(KCNB1):c.2325C>G (p.Pro775=) rs778951965
NM_004975.4(KCNB1):c.2330G>T (p.Ser777Ile)
NM_004975.4(KCNB1):c.2340G>A (p.Gly780=) rs1410171749
NM_004975.4(KCNB1):c.2370A>G (p.Thr790=) rs1411571280
NM_004975.4(KCNB1):c.2403T>G (p.Pro801=)
NM_004975.4(KCNB1):c.2412C>A (p.Thr804=) rs1984177695
NM_004975.4(KCNB1):c.2415C>T (p.Ser805=) rs2146811802
NM_004975.4(KCNB1):c.243C>T (p.Asn81=) rs1295557969
NM_004975.4(KCNB1):c.244G>A (p.Glu82Lys)
NM_004975.4(KCNB1):c.2502G>A (p.Glu834=)
NM_004975.4(KCNB1):c.2529G>A (p.Val843=) rs1233867057
NM_004975.4(KCNB1):c.2538G>A (p.Gly846=)
NM_004975.4(KCNB1):c.2540G>C (p.Gly847Ala)
NM_004975.4(KCNB1):c.2553A>G (p.Gly851=)
NM_004975.4(KCNB1):c.2556C>T (p.Ser852=) rs2146811529
NM_004975.4(KCNB1):c.264C>T (p.His88=)
NM_004975.4(KCNB1):c.267G>A (p.Pro89=)
NM_004975.4(KCNB1):c.270C>A (p.Gly90=)
NM_004975.4(KCNB1):c.270C>T (p.Gly90=)
NM_004975.4(KCNB1):c.279C>T (p.Thr93=)
NM_004975.4(KCNB1):c.315C>T (p.His105=) rs775196693
NM_004975.4(KCNB1):c.336G>A (p.Ala112=)
NM_004975.4(KCNB1):c.336G>T (p.Ala112=)
NM_004975.4(KCNB1):c.33C>A (p.Arg11=) rs943931190
NM_004975.4(KCNB1):c.357C>G (p.Leu119=) rs773968834
NM_004975.4(KCNB1):c.357C>T (p.Leu119=) rs773968834
NM_004975.4(KCNB1):c.372C>T (p.Ile124=) rs147498424
NM_004975.4(KCNB1):c.426G>A (p.Glu142=) rs1440280154
NM_004975.4(KCNB1):c.456C>G (p.Ala152=)
NM_004975.4(KCNB1):c.45G>C (p.Ser15=) rs1980529873
NM_004975.4(KCNB1):c.461C>T (p.Thr154Ile) rs1980513297
NM_004975.4(KCNB1):c.466C>A (p.Arg156=)
NM_004975.4(KCNB1):c.472C>A (p.Arg158=) rs1278790809
NM_004975.4(KCNB1):c.474G>C (p.Arg158=)
NM_004975.4(KCNB1):c.477A>G (p.Glu159=) rs984041865
NM_004975.4(KCNB1):c.489C>T (p.Phe163=) rs767078520
NM_004975.4(KCNB1):c.505G>A (p.Ala169Thr)
NM_004975.4(KCNB1):c.537G>T (p.Leu179=)
NM_004975.4(KCNB1):c.567+12A>T rs2122803009
NM_004975.4(KCNB1):c.567+13T>A
NM_004975.4(KCNB1):c.567+8T>G
NM_004975.4(KCNB1):c.568-10C>T rs1601072100
NM_004975.4(KCNB1):c.5C>A (p.Pro2Gln)
NM_004975.4(KCNB1):c.603C>T (p.Leu201=)
NM_004975.4(KCNB1):c.606C>T (p.Ser202=) rs2146814354
NM_004975.4(KCNB1):c.607A>T (p.Thr203Ser)
NM_004975.4(KCNB1):c.615C>T (p.Ala205=) rs1601072012
NM_004975.4(KCNB1):c.642A>G (p.Leu214=)
NM_004975.4(KCNB1):c.648C>T (p.Ser216=)
NM_004975.4(KCNB1):c.651C>G (p.Leu217=)
NM_004975.4(KCNB1):c.666G>A (p.Gln222=)
NM_004975.4(KCNB1):c.66G>A (p.Glu22=) rs745635029
NM_004975.4(KCNB1):c.6G>A (p.Pro2=)
NM_004975.4(KCNB1):c.702C>G (p.Ala234=) rs753634361
NM_004975.4(KCNB1):c.729G>A (p.Glu243=) rs2146814204
NM_004975.4(KCNB1):c.72G>A (p.Val24=)
NM_004975.4(KCNB1):c.732C>T (p.Tyr244=)
NM_004975.4(KCNB1):c.750C>T (p.Ser250=) rs2146814173
NM_004975.4(KCNB1):c.753G>A (p.Ser251=)
NM_004975.4(KCNB1):c.786C>G (p.Leu262=)
NM_004975.4(KCNB1):c.789T>C (p.Asn263=)
NM_004975.4(KCNB1):c.790G>A (p.Ala264Thr)
NM_004975.4(KCNB1):c.813G>A (p.Leu271=) rs763166574
NM_004975.4(KCNB1):c.816A>G (p.Pro272=)
NM_004975.4(KCNB1):c.819C>T (p.Tyr273=) rs2146814097
NM_004975.4(KCNB1):c.822T>C (p.Tyr274=)
NM_004975.4(KCNB1):c.831T>C (p.Ile277=)
NM_004975.4(KCNB1):c.864A>G (p.Gln288=) rs2146814058
NM_004975.4(KCNB1):c.92G>C (p.Arg31Pro) rs2122803896
NM_004975.4(KCNB1):c.939C>T (p.His313=) rs1304387636
NM_004975.4(KCNB1):c.990G>A (p.Glu330=) rs1131691489
NM_004975.4(KCNB1):c.996C>T (p.Gly332=)

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