ClinVar Miner

List of variants in gene IKBKB studied for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 603
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HGVS dbSNP gnomAD frequency
NM_001556.3(IKBKB):c.1240+14A>T rs2294100 0.75434
NM_001556.3(IKBKB):c.1083G>A (p.Leu361=) rs56230731 0.01028
NM_001556.3(IKBKB):c.2028G>A (p.Met676Ile) rs78448523 0.00575
NM_001556.3(IKBKB):c.1119C>T (p.Asp373=) rs140666106 0.00443
NM_001556.3(IKBKB):c.1606C>T (p.Arg536Trp) rs140485496 0.00373
NM_001556.3(IKBKB):c.1504G>A (p.Glu502Lys) rs115698972 0.00334
NM_001556.3(IKBKB):c.1577G>A (p.Arg526Gln) rs2272736 0.00310
NM_001556.3(IKBKB):c.1702A>C (p.Arg568=) rs151057347 0.00185
NM_001556.3(IKBKB):c.480A>G (p.Leu160=) rs17875704 0.00143
NM_001556.3(IKBKB):c.1677G>T (p.Thr559=) rs143855451 0.00070
NM_001556.3(IKBKB):c.738C>T (p.Ser246=) rs151151310 0.00067
NM_001556.3(IKBKB):c.887C>T (p.Pro296Leu) rs186203343 0.00054
NM_001556.3(IKBKB):c.1987-16T>C rs370418713 0.00049
NM_001556.3(IKBKB):c.568-19C>A rs200334885 0.00034
NM_001556.3(IKBKB):c.1467C>T (p.Ser489=) rs56105162 0.00029
NM_001556.3(IKBKB):c.318+6G>T rs17875678 0.00029
NM_001556.3(IKBKB):c.1585G>A (p.Glu529Lys) rs147186110 0.00026
NM_001556.3(IKBKB):c.1739-9T>C rs141008422 0.00025
NM_001556.3(IKBKB):c.1829C>T (p.Thr610Met) rs200738579 0.00024
NM_001556.3(IKBKB):c.879G>A (p.Thr293=) rs70958395 0.00023
NM_001556.3(IKBKB):c.1126-4G>A rs201394549 0.00019
NM_001556.3(IKBKB):c.2128G>A (p.Ala710Thr) rs34309584 0.00018
NM_001556.3(IKBKB):c.941T>C (p.Ile314Thr) rs200044839 0.00017
NM_001556.3(IKBKB):c.732T>C (p.Val244=) rs138978376 0.00016
NM_001556.3(IKBKB):c.200+14G>A rs200656504 0.00015
NM_001556.3(IKBKB):c.1866G>A (p.Ala622=) rs199681053 0.00013
NM_001556.3(IKBKB):c.692+16G>C rs199613105 0.00012
NM_001556.3(IKBKB):c.938A>G (p.His313Arg) rs141351312 0.00012
NM_001556.3(IKBKB):c.200+19G>C rs202078453 0.00011
NM_001556.3(IKBKB):c.1446G>A (p.Lys482=) rs201250998 0.00010
NM_001556.3(IKBKB):c.1125+14T>G rs200208218 0.00009
NM_001556.3(IKBKB):c.200+13C>T rs199634391 0.00009
NM_001556.3(IKBKB):c.2087A>G (p.Asn696Ser) rs202226005 0.00009
NM_001556.3(IKBKB):c.931-13G>T rs774720889 0.00009
NM_001556.3(IKBKB):c.788A>G (p.Asn263Ser) rs201211235 0.00008
NM_001556.3(IKBKB):c.916A>G (p.Ile306Val) rs140200494 0.00007
NM_001556.3(IKBKB):c.1031C>T (p.Thr344Met) rs201849681 0.00006
NM_001556.3(IKBKB):c.1389C>T (p.Ser463=) rs146173263 0.00006
NM_001556.3(IKBKB):c.1390T>C (p.Cys464Arg) rs141839189 0.00006
NM_001556.3(IKBKB):c.2166C>T (p.Ala722=) rs200992978 0.00006
NM_001556.3(IKBKB):c.396G>A (p.Ala132=) rs201246197 0.00006
NM_001556.3(IKBKB):c.650C>T (p.Thr217Met) rs201023733 0.00006
NM_001556.3(IKBKB):c.693-14A>G rs199679420 0.00006
NM_001556.3(IKBKB):c.111A>G (p.Thr37=) rs144600166 0.00005
NM_001556.3(IKBKB):c.1241-5T>A rs200315242 0.00005
NM_001556.3(IKBKB):c.1336C>T (p.Arg446Trp) rs202136671 0.00005
NM_001556.3(IKBKB):c.1579-16A>G rs771254726 0.00005
NM_001556.3(IKBKB):c.1654A>G (p.Met552Val) rs200018957 0.00005
NM_001556.3(IKBKB):c.1688+11G>T rs202104917 0.00005
NM_001556.3(IKBKB):c.200+12G>A rs201140389 0.00005
NM_001556.3(IKBKB):c.276C>T (p.Pro92=) rs373547989 0.00005
NM_001556.3(IKBKB):c.389-14C>T rs202131191 0.00005
NM_001556.3(IKBKB):c.609C>T (p.Val203=) rs201257343 0.00005
NM_001556.3(IKBKB):c.624C>T (p.Phe208=) rs142029928 0.00005
NM_001556.3(IKBKB):c.674A>G (p.Asn225Ser) rs200288567 0.00005
NM_001556.3(IKBKB):c.1839-20G>T rs201518276 0.00004
NM_001556.3(IKBKB):c.200+16A>G rs781336980 0.00004
NM_001556.3(IKBKB):c.2079G>A (p.Thr693=) rs185488674 0.00004
NM_001556.3(IKBKB):c.2082C>T (p.Ala694=) rs188191356 0.00004
NM_001556.3(IKBKB):c.2119G>A (p.Glu707Lys) rs753511458 0.00004
NM_001556.3(IKBKB):c.261G>A (p.Ala87=) rs201837296 0.00004
NM_001556.3(IKBKB):c.318+13C>T rs200451212 0.00004
NM_001556.3(IKBKB):c.692+13G>A rs751093837 0.00004
NM_001556.3(IKBKB):c.878C>T (p.Thr293Met) rs200322650 0.00004
NM_001556.3(IKBKB):c.999G>T (p.Leu333=) rs561828824 0.00004
NM_001556.3(IKBKB):c.1089C>T (p.Pro363=) rs201410427 0.00003
NM_001556.3(IKBKB):c.1494C>T (p.Ser498=) rs377475488 0.00003
NM_001556.3(IKBKB):c.1584C>T (p.Asn528=) rs202131707 0.00003
NM_001556.3(IKBKB):c.1607G>A (p.Arg536Gln) rs111715123 0.00003
NM_001556.3(IKBKB):c.1669G>A (p.Gly557Arg) rs149701177 0.00003
NM_001556.3(IKBKB):c.1884G>C (p.Lys628Asn) rs372663781 0.00003
NM_001556.3(IKBKB):c.1934G>A (p.Arg645Gln) rs146638252 0.00003
NM_001556.3(IKBKB):c.1996C>T (p.Arg666Cys) rs200511641 0.00003
NM_001556.3(IKBKB):c.2036C>T (p.Ser679Phe) rs1212103006 0.00003
NM_001556.3(IKBKB):c.2114+3A>G rs56329631 0.00003
NM_001556.3(IKBKB):c.2169A>G (p.Ile723Met) rs150441824 0.00003
NM_001556.3(IKBKB):c.2202C>G (p.Phe734Leu) rs56301637 0.00003
NM_001556.3(IKBKB):c.2204C>T (p.Thr735Met) rs555312351 0.00003
NM_001556.3(IKBKB):c.2228A>T (p.Gln743Leu) rs201869683 0.00003
NM_001556.3(IKBKB):c.247A>G (p.Met83Val) rs200048037 0.00003
NM_001556.3(IKBKB):c.613T>C (p.Tyr205His) rs147591709 0.00003
NM_001556.3(IKBKB):c.1097C>T (p.Pro366Leu) rs763596106 0.00002
NM_001556.3(IKBKB):c.1190A>G (p.Tyr397Cys) rs148097786 0.00002
NM_001556.3(IKBKB):c.1360G>A (p.Ala454Thr) rs1286940689 0.00002
NM_001556.3(IKBKB):c.1364+5C>T rs752596848 0.00002
NM_001556.3(IKBKB):c.1803C>T (p.Phe601=) rs200019365 0.00002
NM_001556.3(IKBKB):c.1929T>C (p.Val643=) rs200587822 0.00002
NM_001556.3(IKBKB):c.201-17G>A rs200703112 0.00002
NM_001556.3(IKBKB):c.2232G>A (p.Thr744=) rs552529820 0.00002
NM_001556.3(IKBKB):c.317A>G (p.Lys106Arg) rs755185347 0.00002
NM_001556.3(IKBKB):c.522T>G (p.Asp174Glu) rs749952717 0.00002
NM_001556.3(IKBKB):c.718G>A (p.Glu240Lys) rs201052871 0.00002
NM_001556.3(IKBKB):c.820G>A (p.Glu274Lys) rs200531993 0.00002
NM_001556.3(IKBKB):c.971C>T (p.Thr324Ile) rs754812986 0.00002
NM_001556.3(IKBKB):c.106-3T>C rs374850898 0.00001
NM_001556.3(IKBKB):c.1062G>T (p.Leu354=) rs145086380 0.00001
NM_001556.3(IKBKB):c.1071G>A (p.Ala357=) rs201033742 0.00001
NM_001556.3(IKBKB):c.1084A>G (p.Ile362Val) rs1263837874 0.00001
NM_001556.3(IKBKB):c.1121G>C (p.Gly374Ala) rs1434387039 0.00001
NM_001556.3(IKBKB):c.1235G>C (p.Cys412Ser) rs368737022 0.00001
NM_001556.3(IKBKB):c.1320G>A (p.Leu440=) rs761172279 0.00001
NM_001556.3(IKBKB):c.1337G>A (p.Arg446Gln) rs200485393 0.00001
NM_001556.3(IKBKB):c.1365-15T>C rs756051558 0.00001
NM_001556.3(IKBKB):c.1466G>T (p.Ser489Ile) rs1184918253 0.00001
NM_001556.3(IKBKB):c.14C>T (p.Pro5Leu) rs201805807 0.00001
NM_001556.3(IKBKB):c.1552G>A (p.Glu518Lys) rs1378740755 0.00001
NM_001556.3(IKBKB):c.1578+10T>G rs200300052 0.00001
NM_001556.3(IKBKB):c.1603G>C (p.Glu535Gln) rs1438637705 0.00001
NM_001556.3(IKBKB):c.1623G>A (p.Gln541=) rs202230688 0.00001
NM_001556.3(IKBKB):c.1626C>T (p.Thr542=) rs751362681 0.00001
NM_001556.3(IKBKB):c.165A>G (p.Arg55=) rs192224062 0.00001
NM_001556.3(IKBKB):c.1661G>A (p.Arg554Gln) rs751295594 0.00001
NM_001556.3(IKBKB):c.1676C>T (p.Thr559Met) rs754822259 0.00001
NM_001556.3(IKBKB):c.1739-4C>A rs751889336 0.00001
NM_001556.3(IKBKB):c.1817G>A (p.Arg606Gln) rs776259486 0.00001
NM_001556.3(IKBKB):c.1819G>A (p.Val607Met) rs764627236 0.00001
NM_001556.3(IKBKB):c.1826A>G (p.Tyr609Cys) rs1446069169 0.00001
NM_001556.3(IKBKB):c.1838+12G>A rs767894077 0.00001
NM_001556.3(IKBKB):c.1838+17_1838+38dup rs772372322 0.00001
NM_001556.3(IKBKB):c.1902C>T (p.Ser634=) rs1214645197 0.00001
NM_001556.3(IKBKB):c.1933C>T (p.Arg645Trp) rs753922163 0.00001
NM_001556.3(IKBKB):c.1986+18T>C rs989378536 0.00001
NM_001556.3(IKBKB):c.1986T>C (p.Cys662=) rs1302408676 0.00001
NM_001556.3(IKBKB):c.2078C>T (p.Thr693Met) rs199897983 0.00001
NM_001556.3(IKBKB):c.2104G>A (p.Ala702Thr) rs200260868 0.00001
NM_001556.3(IKBKB):c.2206G>A (p.Ala736Thr) rs17611716 0.00001
NM_001556.3(IKBKB):c.230G>A (p.Arg77Gln) rs200136227 0.00001
NM_001556.3(IKBKB):c.246G>A (p.Gly82=) rs201017671 0.00001
NM_001556.3(IKBKB):c.266A>G (p.Asn89Ser) rs763432993 0.00001
NM_001556.3(IKBKB):c.32C>T (p.Thr11Ile) rs1388981077 0.00001
NM_001556.3(IKBKB):c.393T>C (p.Ser131=) rs200308355 0.00001
NM_001556.3(IKBKB):c.402A>G (p.Arg134=) rs1255803017 0.00001
NM_001556.3(IKBKB):c.546C>T (p.Phe182=) rs756321818 0.00001
NM_001556.3(IKBKB):c.600A>G (p.Thr200=) rs755530832 0.00001
NM_001556.3(IKBKB):c.606C>T (p.Thr202=) rs765015512 0.00001
NM_001556.3(IKBKB):c.651G>A (p.Thr217=) rs1280519569 0.00001
NM_001556.3(IKBKB):c.700A>G (p.Lys234Glu) rs1193171808 0.00001
NM_001556.3(IKBKB):c.756G>A (p.Thr252=) rs368833186 0.00001
NM_001556.3(IKBKB):c.869C>T (p.Thr290Met) rs201602866 0.00001
NM_001556.3(IKBKB):c.870G>A (p.Thr290=) rs202225177 0.00001
NM_001556.3(IKBKB):c.902A>G (p.Lys301Arg) rs1304501516 0.00001
NM_001556.3(IKBKB):c.931-7G>A rs746175474 0.00001
NM_001556.3(IKBKB):c.940A>G (p.Ile314Val) rs201912118 0.00001
NC_000008.10:g.(?_42129619)_(42188497_?)dup
NC_000008.10:g.(?_42146132)_(42146266_?)del
NM_001556.3(IKBKB):c.1011G>A (p.Lys337=) rs757776100
NM_001556.3(IKBKB):c.1023A>G (p.Gln341=)
NM_001556.3(IKBKB):c.105+10C>T
NM_001556.3(IKBKB):c.105+18C>G
NM_001556.3(IKBKB):c.105+18del
NM_001556.3(IKBKB):c.105+19T>C
NM_001556.3(IKBKB):c.105+8C>T
NM_001556.3(IKBKB):c.1056G>A (p.Glu352=)
NM_001556.3(IKBKB):c.106-15G>C rs1811919188
NM_001556.3(IKBKB):c.106-16T>C
NM_001556.3(IKBKB):c.106-4G>A
NM_001556.3(IKBKB):c.106-4G>T rs1020771795
NM_001556.3(IKBKB):c.106-7T>C
NM_001556.3(IKBKB):c.1071G>C (p.Ala357=)
NM_001556.3(IKBKB):c.1073G>A (p.Gly358Asp) rs2130638855
NM_001556.3(IKBKB):c.1079C>T (p.Ala360Val)
NM_001556.3(IKBKB):c.1080G>A (p.Ala360=)
NM_001556.3(IKBKB):c.1086C>A (p.Ile362=)
NM_001556.3(IKBKB):c.1090G>A (p.Asp364Asn)
NM_001556.3(IKBKB):c.1098T>C (p.Pro366=)
NM_001556.3(IKBKB):c.1098T>G (p.Pro366=)
NM_001556.3(IKBKB):c.1106A>G (p.Gln369Arg) rs56411242
NM_001556.3(IKBKB):c.1107G>A (p.Gln369=)
NM_001556.3(IKBKB):c.1117G>C (p.Asp373His) rs2130639266
NM_001556.3(IKBKB):c.1120G>A (p.Gly374Ser) rs758806135
NM_001556.3(IKBKB):c.1124A>C (p.Lys375Thr) rs1585763391
NM_001556.3(IKBKB):c.1125+15C>T
NM_001556.3(IKBKB):c.1125+16G>A
NM_001556.3(IKBKB):c.1125+20A>T
NM_001556.3(IKBKB):c.1126-12G>C
NM_001556.3(IKBKB):c.1126-13T>C
NM_001556.3(IKBKB):c.1126-8C>T
NM_001556.3(IKBKB):c.1130A>G (p.Asn377Ser)
NM_001556.3(IKBKB):c.1136G>T (p.Gly379Val)
NM_001556.3(IKBKB):c.1167C>T (p.Leu389=) rs1156291776
NM_001556.3(IKBKB):c.1170T>C (p.Phe390=)
NM_001556.3(IKBKB):c.1172A>G (p.Asp391Gly)
NM_001556.3(IKBKB):c.1173C>A (p.Asp391Glu)
NM_001556.3(IKBKB):c.1188C>G (p.Thr396=)
NM_001556.3(IKBKB):c.1192G>A (p.Glu398Lys)
NM_001556.3(IKBKB):c.1200G>C (p.Gln400His)
NM_001556.3(IKBKB):c.1205C>G (p.Ser402Cys)
NM_001556.3(IKBKB):c.1215C>G (p.Pro405=)
NM_001556.3(IKBKB):c.1215C>T (p.Pro405=)
NM_001556.3(IKBKB):c.1223A>C (p.Glu408Ala) rs543940041
NM_001556.3(IKBKB):c.1238T>A (p.Ile413Asn) rs1221917553
NM_001556.3(IKBKB):c.1240+10T>C rs2130646776
NM_001556.3(IKBKB):c.1240+14_1240+18del rs1305422495
NM_001556.3(IKBKB):c.1240+20del rs1818975435
NM_001556.3(IKBKB):c.1240C>T (p.Leu414Phe)
NM_001556.3(IKBKB):c.1241-12C>G
NM_001556.3(IKBKB):c.1241-18T>C
NM_001556.3(IKBKB):c.1241-20G>T
NM_001556.3(IKBKB):c.1241-5T>C
NM_001556.3(IKBKB):c.1241-8G>A
NM_001556.3(IKBKB):c.1241-8G>C
NM_001556.3(IKBKB):c.1244A>G (p.Gln415Arg)
NM_001556.3(IKBKB):c.1254G>A (p.Lys418=)
NM_001556.3(IKBKB):c.1255A>G (p.Arg419Gly)
NM_001556.3(IKBKB):c.1263C>T (p.Leu421=)
NM_001556.3(IKBKB):c.1264G>A (p.Ala422Thr)
NM_001556.3(IKBKB):c.1269C>T (p.Phe423=)
NM_001556.3(IKBKB):c.126C>T (p.Ala42=)
NM_001556.3(IKBKB):c.1272C>T (p.Phe424=)
NM_001556.3(IKBKB):c.1281G>A (p.Arg427=)
NM_001556.3(IKBKB):c.1292dup (p.Gln432fs) rs886041036
NM_001556.3(IKBKB):c.1308C>T (p.Ser436=)
NM_001556.3(IKBKB):c.1317C>G (p.Thr439=)
NM_001556.3(IKBKB):c.1336C>A (p.Arg446=)
NM_001556.3(IKBKB):c.1338G>A (p.Arg446=) rs1554523461
NM_001556.3(IKBKB):c.1342C>T (p.Gln448Ter)
NM_001556.3(IKBKB):c.1357G>A (p.Ala453Thr)
NM_001556.3(IKBKB):c.1359C>T (p.Ala453=)
NM_001556.3(IKBKB):c.1364+11A>G
NM_001556.3(IKBKB):c.1364+13G>C
NM_001556.3(IKBKB):c.1364+13G>T
NM_001556.3(IKBKB):c.1364+15T>G
NM_001556.3(IKBKB):c.1364+16T>A
NM_001556.3(IKBKB):c.1364+16_1364+17insG
NM_001556.3(IKBKB):c.1364+19T>G
NM_001556.3(IKBKB):c.1364+23del
NM_001556.3(IKBKB):c.1364+23dup rs772463609
NM_001556.3(IKBKB):c.1364+6G>A
NM_001556.3(IKBKB):c.1365-14T>C
NM_001556.3(IKBKB):c.1365-16C>G
NM_001556.3(IKBKB):c.1365-17C>A
NM_001556.3(IKBKB):c.1365-2A>C
NM_001556.3(IKBKB):c.1365-6C>T
NM_001556.3(IKBKB):c.1365-7C>A
NM_001556.3(IKBKB):c.1392C>A (p.Cys464Ter)
NM_001556.3(IKBKB):c.13C>A (p.Pro5Thr)
NM_001556.3(IKBKB):c.1404G>T (p.Met468Ile)
NM_001556.3(IKBKB):c.1412C>G (p.Ser471Cys)
NM_001556.3(IKBKB):c.1413C>T (p.Ser471=)
NM_001556.3(IKBKB):c.1416G>C (p.Met472Ile)
NM_001556.3(IKBKB):c.1424T>C (p.Met475Thr) rs200031466
NM_001556.3(IKBKB):c.1429C>T (p.Gln477Ter)
NM_001556.3(IKBKB):c.1431G>A (p.Gln477=)
NM_001556.3(IKBKB):c.1439A>G (p.Lys480Arg)
NM_001556.3(IKBKB):c.1451A>G (p.Asp484Gly) rs2130659705
NM_001556.3(IKBKB):c.1465A>G (p.Ser489Gly)
NM_001556.3(IKBKB):c.1468A>G (p.Ile490Val) rs1819332008
NM_001556.3(IKBKB):c.1479C>T (p.Asp493=)
NM_001556.3(IKBKB):c.147G>A (p.Glu49=)
NM_001556.3(IKBKB):c.1480C>A (p.Leu494Met)
NM_001556.3(IKBKB):c.1480C>T (p.Leu494=)
NM_001556.3(IKBKB):c.1495G>A (p.Glu499Lys)
NM_001556.3(IKBKB):c.1503C>A (p.Thr501=)
NM_001556.3(IKBKB):c.1503C>G (p.Thr501=)
NM_001556.3(IKBKB):c.1503C>T (p.Thr501=)
NM_001556.3(IKBKB):c.1516+12C>T
NM_001556.3(IKBKB):c.1516+18A>C
NM_001556.3(IKBKB):c.1517-10_1517-9insG
NM_001556.3(IKBKB):c.1517-11T>A
NM_001556.3(IKBKB):c.1517-12A>T
NM_001556.3(IKBKB):c.1517-18T>C
NM_001556.3(IKBKB):c.1517-3C>G rs1819383596
NM_001556.3(IKBKB):c.1517-4T>C
NM_001556.3(IKBKB):c.1519T>C (p.Ser507Pro) rs1585781141
NM_001556.3(IKBKB):c.1528C>T (p.Leu510=)
NM_001556.3(IKBKB):c.1533G>A (p.Leu511=)
NM_001556.3(IKBKB):c.1557G>C (p.Gln519His)
NM_001556.3(IKBKB):c.1569C>T (p.Leu523=)
NM_001556.3(IKBKB):c.1572T>C (p.Cys524=)
NM_001556.3(IKBKB):c.1578+11C>A
NM_001556.3(IKBKB):c.1578+7G>A
NM_001556.3(IKBKB):c.1579-20T>C rs2130670749
NM_001556.3(IKBKB):c.1579-20T>G
NM_001556.3(IKBKB):c.1579-5A>G
NM_001556.3(IKBKB):c.1579-8dup
NM_001556.3(IKBKB):c.1587A>G (p.Glu529=)
NM_001556.3(IKBKB):c.1599G>T (p.Leu533=)
NM_001556.3(IKBKB):c.1600G>A (p.Val534Ile)
NM_001556.3(IKBKB):c.1608G>A (p.Arg536=)
NM_001556.3(IKBKB):c.1609del (p.Arg536_Met537insTer)
NM_001556.3(IKBKB):c.1618C>T (p.Leu540=) rs766303229
NM_001556.3(IKBKB):c.1627G>A (p.Asp543Asn)
NM_001556.3(IKBKB):c.162C>G (p.Asn54Lys)
NM_001556.3(IKBKB):c.1632T>C (p.Ile544=)
NM_001556.3(IKBKB):c.1637A>G (p.Asp546Gly) rs2130671505
NM_001556.3(IKBKB):c.163C>T (p.Arg55Ter) rs1190950389
NM_001556.3(IKBKB):c.1650C>T (p.Ser550=)
NM_001556.3(IKBKB):c.1658G>C (p.Gly553Ala) rs1326176524
NM_001556.3(IKBKB):c.1660C>T (p.Arg554Trp)
NM_001556.3(IKBKB):c.1665G>A (p.Lys555=)
NM_001556.3(IKBKB):c.1669G>C (p.Gly557Arg)
NM_001556.3(IKBKB):c.1671G>A (p.Gly557=)
NM_001556.3(IKBKB):c.1673G>T (p.Gly558Val) rs1441651063
NM_001556.3(IKBKB):c.1673del (p.Gly558fs)
NM_001556.3(IKBKB):c.1675A>G (p.Thr559Ala)
NM_001556.3(IKBKB):c.1675A>T (p.Thr559Ser) rs1182623073
NM_001556.3(IKBKB):c.1677G>A (p.Thr559=)
NM_001556.3(IKBKB):c.1679T>C (p.Leu560Pro) rs1195581989
NM_001556.3(IKBKB):c.1680G>A (p.Leu560=)
NM_001556.3(IKBKB):c.1683C>T (p.Asp561=)
NM_001556.3(IKBKB):c.1686C>T (p.Asp562=)
NM_001556.3(IKBKB):c.1688+17G>T
NM_001556.3(IKBKB):c.1688+18G>T
NM_001556.3(IKBKB):c.1688+19G>A
NM_001556.3(IKBKB):c.1688+19G>T
NM_001556.3(IKBKB):c.1688+20C>T
NM_001556.3(IKBKB):c.1688+5G>A
NM_001556.3(IKBKB):c.1688+8C>T
NM_001556.3(IKBKB):c.1689-11G>A
NM_001556.3(IKBKB):c.1689-12T>C
NM_001556.3(IKBKB):c.1689-15C>A
NM_001556.3(IKBKB):c.1689-16T>C
NM_001556.3(IKBKB):c.1690G>A (p.Glu564Lys)
NM_001556.3(IKBKB):c.1696C>T (p.Gln566Ter)
NM_001556.3(IKBKB):c.1701A>G (p.Ala567=)
NM_001556.3(IKBKB):c.1705G>T (p.Glu569Ter) rs2130681529
NM_001556.3(IKBKB):c.1706A>G (p.Glu569Gly)
NM_001556.3(IKBKB):c.1714A>G (p.Arg572Gly)
NM_001556.3(IKBKB):c.1719A>G (p.Arg573=)
NM_001556.3(IKBKB):c.1723A>C (p.Arg575=)
NM_001556.3(IKBKB):c.1731dup (p.Pro578fs) rs2130681744
NM_001556.3(IKBKB):c.1735C>T (p.Arg579Ter)
NM_001556.3(IKBKB):c.1736G>A (p.Arg579Gln)
NM_001556.3(IKBKB):c.1738+14T>G
NM_001556.3(IKBKB):c.1738+15G>T
NM_001556.3(IKBKB):c.1738+18T>C
NM_001556.3(IKBKB):c.1738+19C>G
NM_001556.3(IKBKB):c.1738+8G>C
NM_001556.3(IKBKB):c.1738+9G>A
NM_001556.3(IKBKB):c.1739-12C>A
NM_001556.3(IKBKB):c.1739-15C>G
NM_001556.3(IKBKB):c.1739-15C>T
NM_001556.3(IKBKB):c.1739-4C>T
NM_001556.3(IKBKB):c.1749T>C (p.Thr583=)
NM_001556.3(IKBKB):c.1761T>G (p.Ser587Arg)
NM_001556.3(IKBKB):c.1762C>T (p.Gln588Ter)
NM_001556.3(IKBKB):c.1773A>G (p.Val591=)
NM_001556.3(IKBKB):c.177C>T (p.Cys59=)
NM_001556.3(IKBKB):c.178C>T (p.Leu60=)
NM_001556.3(IKBKB):c.1798A>G (p.Ser600Gly) rs772006031
NM_001556.3(IKBKB):c.1806G>A (p.Glu602=)
NM_001556.3(IKBKB):c.1812A>G (p.Lys604=)
NM_001556.3(IKBKB):c.1813G>T (p.Val605Leu) rs1563364138
NM_001556.3(IKBKB):c.1816C>G (p.Arg606Gly) rs768351634
NM_001556.3(IKBKB):c.1819G>C (p.Val607Leu) rs764627236
NM_001556.3(IKBKB):c.1824C>T (p.Ile608=) rs2130683485
NM_001556.3(IKBKB):c.1830G>A (p.Thr610=)
NM_001556.3(IKBKB):c.1832A>G (p.Gln611Arg)
NM_001556.3(IKBKB):c.1838+11C>T
NM_001556.3(IKBKB):c.1838+7G>T
NM_001556.3(IKBKB):c.1838+8C>T
NM_001556.3(IKBKB):c.1839-11A>G
NM_001556.3(IKBKB):c.1839-16T>C
NM_001556.3(IKBKB):c.1839-7T>G
NM_001556.3(IKBKB):c.1839-9T>C
NM_001556.3(IKBKB):c.1847_1848del (p.Val616fs)
NM_001556.3(IKBKB):c.1848G>A (p.Val616=)
NM_001556.3(IKBKB):c.1849G>A (p.Val617Ile)
NM_001556.3(IKBKB):c.1851T>G (p.Val617=)
NM_001556.3(IKBKB):c.1866G>T (p.Ala622=)
NM_001556.3(IKBKB):c.1867C>T (p.Leu623=)
NM_001556.3(IKBKB):c.1868T>C (p.Leu623Pro)
NM_001556.3(IKBKB):c.1872A>G (p.Glu624=)
NM_001556.3(IKBKB):c.1884G>A (p.Lys628=)
NM_001556.3(IKBKB):c.1893G>A (p.Glu631=)
NM_001556.3(IKBKB):c.1896G>A (p.Val632=)
NM_001556.3(IKBKB):c.1914G>A (p.Glu638=)
NM_001556.3(IKBKB):c.1916A>G (p.Asp639Gly)
NM_001556.3(IKBKB):c.1923G>A (p.Lys641=)
NM_001556.3(IKBKB):c.1927_1928del (p.Val643fs) rs1205793780
NM_001556.3(IKBKB):c.1930G>A (p.Val644Ile)
NM_001556.3(IKBKB):c.1947G>A (p.Lys649=)
NM_001556.3(IKBKB):c.1948C>T (p.Arg650Trp)
NM_001556.3(IKBKB):c.1959G>A (p.Glu653=)
NM_001556.3(IKBKB):c.1977G>A (p.Lys659=)
NM_001556.3(IKBKB):c.1986+14G>C
NM_001556.3(IKBKB):c.1986+16G>T
NM_001556.3(IKBKB):c.1986+17G>A
NM_001556.3(IKBKB):c.1986+8_1986+11del
NM_001556.3(IKBKB):c.1987-14A>G
NM_001556.3(IKBKB):c.1987-15G>T
NM_001556.3(IKBKB):c.1987-17T>C
NM_001556.3(IKBKB):c.1987-17_1987-16del rs747312853
NM_001556.3(IKBKB):c.200+11C>T
NM_001556.3(IKBKB):c.200+12G>C
NM_001556.3(IKBKB):c.200+13C>G
NM_001556.3(IKBKB):c.200+14G>C
NM_001556.3(IKBKB):c.200+14G>T rs200656504
NM_001556.3(IKBKB):c.200+15C>T
NM_001556.3(IKBKB):c.200+18A>T
NM_001556.3(IKBKB):c.200+7G>C
NM_001556.3(IKBKB):c.200+8C>G rs2130287493
NM_001556.3(IKBKB):c.2000G>C (p.Gly667Ala) rs1820663869
NM_001556.3(IKBKB):c.2005G>C (p.Val669Leu)
NM_001556.3(IKBKB):c.2007C>T (p.Val669=)
NM_001556.3(IKBKB):c.201-11C>A
NM_001556.3(IKBKB):c.201-18C>T
NM_001556.3(IKBKB):c.201-20A>G
NM_001556.3(IKBKB):c.201-6T>G
NM_001556.3(IKBKB):c.201-7C>T
NM_001556.3(IKBKB):c.2019G>A (p.Pro673=)
NM_001556.3(IKBKB):c.203T>G (p.Leu68Arg)
NM_001556.3(IKBKB):c.2041C>T (p.Leu681Phe)
NM_001556.3(IKBKB):c.2043T>C (p.Leu681=)
NM_001556.3(IKBKB):c.2052T>G (p.Pro684=)
NM_001556.3(IKBKB):c.2055G>A (p.Gly685=)
NM_001556.3(IKBKB):c.2074T>A (p.Ser692Thr)
NM_001556.3(IKBKB):c.2083T>A (p.Ser695Thr) rs1820679317
NM_001556.3(IKBKB):c.2083T>C (p.Ser695Pro)
NM_001556.3(IKBKB):c.2114+12T>A
NM_001556.3(IKBKB):c.2114+14A>G
NM_001556.3(IKBKB):c.2114+15G>A
NM_001556.3(IKBKB):c.2114+16C>T
NM_001556.3(IKBKB):c.2114+18G>C
NM_001556.3(IKBKB):c.2114+19T>A
NM_001556.3(IKBKB):c.2114+19T>C
NM_001556.3(IKBKB):c.2114+7C>A
NM_001556.3(IKBKB):c.2115-11A>G
NM_001556.3(IKBKB):c.2115-12C>G
NM_001556.3(IKBKB):c.2115-16T>C
NM_001556.3(IKBKB):c.2115-17T>G
NM_001556.3(IKBKB):c.2115-3T>C
NM_001556.3(IKBKB):c.2115-8T>C rs2130735549
NM_001556.3(IKBKB):c.2116del (p.Glu706fs)
NM_001556.3(IKBKB):c.212C>T (p.Pro71Leu)
NM_001556.3(IKBKB):c.2139T>C (p.His713=)
NM_001556.3(IKBKB):c.213C>G (p.Pro71=)
NM_001556.3(IKBKB):c.2151C>G (p.Thr717=)
NM_001556.3(IKBKB):c.2155C>T (p.Leu719=)
NM_001556.3(IKBKB):c.2156T>C (p.Leu719Pro) rs2130735732
NM_001556.3(IKBKB):c.215A>G (p.Asn72Ser) rs771764280
NM_001556.3(IKBKB):c.2178T>C (p.Thr726=) rs865780558
NM_001556.3(IKBKB):c.2180_2181del (p.Val727fs)
NM_001556.3(IKBKB):c.2185G>A (p.Glu729Lys)
NM_001556.3(IKBKB):c.2188C>G (p.Gln730Glu)
NM_001556.3(IKBKB):c.2190A>C (p.Gln730His)
NM_001556.3(IKBKB):c.2190A>G (p.Gln730=)
NM_001556.3(IKBKB):c.2204C>A (p.Thr735Lys) rs555312351
NM_001556.3(IKBKB):c.2205+12T>C
NM_001556.3(IKBKB):c.2205+20T>C
NM_001556.3(IKBKB):c.2205+2T>C rs2130736002
NM_001556.3(IKBKB):c.2205+8C>T
NM_001556.3(IKBKB):c.2206-13T>C
NM_001556.3(IKBKB):c.2206-17T>C
NM_001556.3(IKBKB):c.2206-19C>T rs2130743781
NM_001556.3(IKBKB):c.2212G>A (p.Asp738Asn) rs201036758
NM_001556.3(IKBKB):c.2220C>A (p.Ser740Arg)
NM_001556.3(IKBKB):c.2224_2232dup (p.Leu742_Thr744dup) rs1821622693
NM_001556.3(IKBKB):c.2231C>T (p.Thr744Met)
NM_001556.3(IKBKB):c.2235A>G (p.Glu745=)
NM_001556.3(IKBKB):c.2235AGA[2] (p.Glu748del) rs774937660
NM_001556.3(IKBKB):c.2254C>T (p.Leu752=)
NM_001556.3(IKBKB):c.2259G>A (p.Glu753=)
NM_001556.3(IKBKB):c.2260C>T (p.Gln754Ter)
NM_001556.3(IKBKB):c.2260_2262dup (p.Gln754_Ala755insGln)
NM_001556.3(IKBKB):c.2263G>A (p.Ala755Thr)
NM_001556.3(IKBKB):c.2263G>T (p.Ala755Ser) rs202054179
NM_001556.3(IKBKB):c.25del (p.Thr9fs) rs2129978037
NM_001556.3(IKBKB):c.261G>T (p.Ala87=)
NM_001556.3(IKBKB):c.264C>T (p.Pro88=)
NM_001556.3(IKBKB):c.273G>T (p.Leu91=)
NM_001556.3(IKBKB):c.277C>T (p.Leu93=)
NM_001556.3(IKBKB):c.27G>A (p.Thr9=)
NM_001556.3(IKBKB):c.282G>A (p.Leu94=)
NM_001556.3(IKBKB):c.313C>T (p.Arg105Trp) rs1812326855
NM_001556.3(IKBKB):c.314G>A (p.Arg105Gln) rs1446214032
NM_001556.3(IKBKB):c.315G>A (p.Arg105=)
NM_001556.3(IKBKB):c.318+14G>A
NM_001556.3(IKBKB):c.318+16C>T
NM_001556.3(IKBKB):c.389-11del
NM_001556.3(IKBKB):c.389-15C>G
NM_001556.3(IKBKB):c.389-16C>A
NM_001556.3(IKBKB):c.389-20C>T
NM_001556.3(IKBKB):c.38G>A (p.Gly13Glu)
NM_001556.3(IKBKB):c.42C>T (p.Ala14=)
NM_001556.3(IKBKB):c.430C>A (p.Arg144=)
NM_001556.3(IKBKB):c.432G>A (p.Arg144=) rs2130520870
NM_001556.3(IKBKB):c.436C>T (p.Leu146=)
NM_001556.3(IKBKB):c.453C>T (p.Ile151=)
NM_001556.3(IKBKB):c.456C>T (p.Val152=)
NM_001556.3(IKBKB):c.461A>G (p.Gln154Arg) rs1425985153
NM_001556.3(IKBKB):c.467G>C (p.Gly156Ala)
NM_001556.3(IKBKB):c.471A>G (p.Glu157=)
NM_001556.3(IKBKB):c.477+12C>T
NM_001556.3(IKBKB):c.477+18A>C
NM_001556.3(IKBKB):c.477+19C>G
NM_001556.3(IKBKB):c.477+7G>A
NM_001556.3(IKBKB):c.477+8A>G
NM_001556.3(IKBKB):c.501A>G (p.Leu167=)
NM_001556.3(IKBKB):c.509C>T (p.Ala170Val) rs1554518965
NM_001556.3(IKBKB):c.514G>A (p.Glu172Lys)
NM_001556.3(IKBKB):c.517C>T (p.Leu173=)
NM_001556.3(IKBKB):c.537C>T (p.Cys179=)
NM_001556.3(IKBKB):c.547G>A (p.Val183Met)
NM_001556.3(IKBKB):c.552G>A (p.Gly184=)
NM_001556.3(IKBKB):c.554C>A (p.Thr185Asn)
NM_001556.3(IKBKB):c.564C>T (p.Tyr188=) rs1585702686
NM_001556.3(IKBKB):c.567+10G>A
NM_001556.3(IKBKB):c.567+12G>A
NM_001556.3(IKBKB):c.567+12G>T
NM_001556.3(IKBKB):c.567+16T>G
NM_001556.3(IKBKB):c.567+18C>G rs199990196
NM_001556.3(IKBKB):c.567+19del rs1563336804
NM_001556.3(IKBKB):c.567+7A>C
NM_001556.3(IKBKB):c.568-11T>C
NM_001556.3(IKBKB):c.568-14dup
NM_001556.3(IKBKB):c.568-16C>T
NM_001556.3(IKBKB):c.568-8T>C rs2130562664
NM_001556.3(IKBKB):c.568-9T>C
NM_001556.3(IKBKB):c.576G>A (p.Glu192=)
NM_001556.3(IKBKB):c.577C>G (p.Leu193Val) rs2130562887
NM_001556.3(IKBKB):c.580C>T (p.Leu194=)
NM_001556.3(IKBKB):c.597C>T (p.Tyr199=)
NM_001556.3(IKBKB):c.606C>G (p.Thr202=) rs765015512
NM_001556.3(IKBKB):c.607G>A (p.Val203Ile) rs1563340753
NM_001556.3(IKBKB):c.648C>T (p.Ile216=)
NM_001556.3(IKBKB):c.651G>C (p.Thr217=)
NM_001556.3(IKBKB):c.669C>T (p.Leu223=)
NM_001556.3(IKBKB):c.672C>T (p.Pro224=)
NM_001556.3(IKBKB):c.675C>G (p.Asn225Lys) rs368588487
NM_001556.3(IKBKB):c.684C>A (p.Pro228=)
NM_001556.3(IKBKB):c.684C>T (p.Pro228=)
NM_001556.3(IKBKB):c.687G>A (p.Val229=)
NM_001556.3(IKBKB):c.690G>A (p.Gln230=)
NM_001556.3(IKBKB):c.692+11C>G
NM_001556.3(IKBKB):c.692+12C>T
NM_001556.3(IKBKB):c.692+12dup
NM_001556.3(IKBKB):c.692+14G>C
NM_001556.3(IKBKB):c.692+5G>C
NM_001556.3(IKBKB):c.692+7G>A
NM_001556.3(IKBKB):c.693-10A>G
NM_001556.3(IKBKB):c.693-13T>A
NM_001556.3(IKBKB):c.693-15G>C
NM_001556.3(IKBKB):c.693-16A>G
NM_001556.3(IKBKB):c.693-6T>C rs758542815
NM_001556.3(IKBKB):c.693-9T>C
NM_001556.3(IKBKB):c.699A>C (p.Ser233=)
NM_001556.3(IKBKB):c.699A>G (p.Ser233=)
NM_001556.3(IKBKB):c.702A>G (p.Lys234=)
NM_001556.3(IKBKB):c.703G>A (p.Val235Met)
NM_001556.3(IKBKB):c.707G>A (p.Arg236Gln)
NM_001556.3(IKBKB):c.712A>C (p.Lys238Gln)
NM_001556.3(IKBKB):c.723G>A (p.Val241=)
NM_001556.3(IKBKB):c.72G>C (p.Gly24=)
NM_001556.3(IKBKB):c.730G>A (p.Val244Ile) rs774103270
NM_001556.3(IKBKB):c.735T>C (p.Val245=) rs2130616465
NM_001556.3(IKBKB):c.739G>A (p.Glu247Lys)
NM_001556.3(IKBKB):c.742G>C (p.Asp248His) rs2130616545
NM_001556.3(IKBKB):c.745T>C (p.Leu249=)
NM_001556.3(IKBKB):c.752G>C (p.Gly251Ala) rs1585747711
NM_001556.3(IKBKB):c.756G>C (p.Thr252=)
NM_001556.3(IKBKB):c.757G>C (p.Val253Leu) rs140074007
NM_001556.3(IKBKB):c.762G>A (p.Lys254=)
NM_001556.3(IKBKB):c.767C>T (p.Ser256Leu)
NM_001556.3(IKBKB):c.780C>G (p.Pro260=)
NM_001556.3(IKBKB):c.780C>T (p.Pro260=)
NM_001556.3(IKBKB):c.792T>C (p.Asn264=)
NM_001556.3(IKBKB):c.800+10A>G
NM_001556.3(IKBKB):c.800+11G>C
NM_001556.3(IKBKB):c.800+12C>T
NM_001556.3(IKBKB):c.800+13G>A
NM_001556.3(IKBKB):c.800+13G>C
NM_001556.3(IKBKB):c.800+3A>G rs1324740567
NM_001556.3(IKBKB):c.801-12T>C
NM_001556.3(IKBKB):c.801-16A>G
NM_001556.3(IKBKB):c.801-19A>G rs570415292
NM_001556.3(IKBKB):c.801-5C>G rs1818657558
NM_001556.3(IKBKB):c.801-9T>C
NM_001556.3(IKBKB):c.812A>C (p.Glu271Ala)
NM_001556.3(IKBKB):c.814C>T (p.Arg272Ter) rs200296680
NM_001556.3(IKBKB):c.817C>T (p.Leu273=)
NM_001556.3(IKBKB):c.819G>A (p.Leu273=) rs1585758837
NM_001556.3(IKBKB):c.81A>T (p.Gly27=)
NM_001556.3(IKBKB):c.834A>G (p.Gln278=)
NM_001556.3(IKBKB):c.840G>T (p.Met280Ile) rs1818662984
NM_001556.3(IKBKB):c.854C>G (p.Pro285Arg)
NM_001556.3(IKBKB):c.855C>G (p.Pro285=)
NM_001556.3(IKBKB):c.856C>T (p.Arg286Ter) rs1818665697
NM_001556.3(IKBKB):c.881A>G (p.Tyr294Cys) rs759786790
NM_001556.3(IKBKB):c.882T>C (p.Tyr294=)
NM_001556.3(IKBKB):c.891T>C (p.Asn297=)
NM_001556.3(IKBKB):c.894C>G (p.Gly298=)
NM_001556.3(IKBKB):c.894C>T (p.Gly298=)
NM_001556.3(IKBKB):c.90C>G (p.Ile30Met) rs1807917822
NM_001556.3(IKBKB):c.923dup (p.Asn308fs)
NM_001556.3(IKBKB):c.925T>C (p.Leu309=)
NM_001556.3(IKBKB):c.930+19T>G
NM_001556.3(IKBKB):c.930+7G>A
NM_001556.3(IKBKB):c.931-12G>C
NM_001556.3(IKBKB):c.931-12G>T rs920349132
NM_001556.3(IKBKB):c.931-18A>G
NM_001556.3(IKBKB):c.931-18A>T
NM_001556.3(IKBKB):c.931-19C>A
NM_001556.3(IKBKB):c.931-20A>G
NM_001556.3(IKBKB):c.931-6T>C
NM_001556.3(IKBKB):c.93A>G (p.Arg31=)
NM_001556.3(IKBKB):c.950T>C (p.Met317Thr) rs1818752101
NM_001556.3(IKBKB):c.954C>A (p.Val318=)
NM_001556.3(IKBKB):c.956C>T (p.Thr319Met)
NM_001556.3(IKBKB):c.957G>A (p.Thr319=)
NM_001556.3(IKBKB):c.972C>T (p.Thr324=)
NM_001556.3(IKBKB):c.978T>G (p.Pro326=)
NM_001556.3(IKBKB):c.987G>A (p.Glu329=) rs1402092076

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