ClinVar Miner

List of variants in gene NFKB2 reported as likely benign for common variable immunodeficiency

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 247
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HGVS dbSNP gnomAD frequency
NM_001322934.2(NFKB2):c.21+13G>A rs199513883 0.00288
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038 0.00128
NM_001322934.2(NFKB2):c.2072-3C>T rs201550645 0.00121
NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His) rs200227171 0.00065
NM_001322934.2(NFKB2):c.2113C>G (p.Leu705Val) rs376121715 0.00054
NM_001322934.2(NFKB2):c.2167G>A (p.Asp723Asn) rs199577673 0.00050
NM_001322934.2(NFKB2):c.2249C>T (p.Ala750Val) rs41293042 0.00041
NM_001322934.2(NFKB2):c.2350G>A (p.Gly784Arg) rs367889547 0.00021
NM_001322934.2(NFKB2):c.2676C>T (p.His892=) rs572862942 0.00019
NM_001322934.2(NFKB2):c.1590C>T (p.Pro530=) rs369780227 0.00016
NM_001322934.2(NFKB2):c.2466+19T>C rs978484878 0.00016
NM_001322934.2(NFKB2):c.2349C>T (p.Asp783=) rs762058625 0.00014
NM_001322934.2(NFKB2):c.1560C>T (p.Val520=) rs376651842 0.00010
NM_001322934.2(NFKB2):c.2463C>T (p.Tyr821=) rs540283644 0.00010
NM_001322934.2(NFKB2):c.992-14T>C rs773538044 0.00007
NM_001322934.2(NFKB2):c.1469+19G>A rs1010426394 0.00006
NM_001322934.2(NFKB2):c.1980C>T (p.Asn660=) rs770000992 0.00006
NM_001322934.2(NFKB2):c.2067G>A (p.Lys689=) rs745876650 0.00006
NM_001322934.2(NFKB2):c.2271C>T (p.Pro757=) rs370993988 0.00006
NM_001322934.2(NFKB2):c.2286C>T (p.Ser762=) rs899733509 0.00006
NM_001322934.2(NFKB2):c.9T>C (p.Ser3=) rs748114844 0.00006
NM_001322934.2(NFKB2):c.1380C>A (p.Ala460=) rs751586725 0.00005
NM_001322934.2(NFKB2):c.2139C>T (p.Ser713=) rs371867635 0.00005
NM_001322934.2(NFKB2):c.2169C>T (p.Asp723=) rs777674970 0.00005
NM_001322934.2(NFKB2):c.2224-14G>A rs746048054 0.00005
NM_001322934.2(NFKB2):c.396-16G>A rs368775776 0.00005
NM_001322934.2(NFKB2):c.579C>T (p.Arg193=) rs766437395 0.00005
NM_001322934.2(NFKB2):c.1101C>T (p.Tyr367=) rs771607267 0.00004
NM_001322934.2(NFKB2):c.118C>T (p.Leu40=) rs368708648 0.00004
NM_001322934.2(NFKB2):c.1368C>T (p.Arg456=) rs1368578412 0.00004
NM_001322934.2(NFKB2):c.1470-16G>A rs368440166 0.00004
NM_001322934.2(NFKB2):c.1470-8A>T rs747203380 0.00004
NM_001322934.2(NFKB2):c.1938G>A (p.Glu646=) rs563687760 0.00004
NM_001322934.2(NFKB2):c.216G>A (p.Lys72=) rs369551276 0.00004
NM_001322934.2(NFKB2):c.2223+16G>C rs199772393 0.00004
NM_001322934.2(NFKB2):c.2517C>A (p.Gly839=) rs1232671317 0.00004
NM_001322934.2(NFKB2):c.502+18G>A rs754132804 0.00004
NM_001322934.2(NFKB2):c.522G>T (p.Leu174=) rs374045556 0.00004
NM_001322934.2(NFKB2):c.840T>C (p.Asp280=) rs199585223 0.00004
NM_001322934.2(NFKB2):c.1117+9G>A rs770791475 0.00003
NM_001322934.2(NFKB2):c.1386C>G (p.Leu462=) rs762807587 0.00003
NM_001322934.2(NFKB2):c.1620G>A (p.Thr540=) rs45454603 0.00003
NM_001322934.2(NFKB2):c.255C>T (p.Tyr85=) rs766359206 0.00003
NM_001322934.2(NFKB2):c.2604C>T (p.Tyr868=) rs778242288 0.00003
NM_001322934.2(NFKB2):c.2616A>G (p.Ser872=) rs992741348 0.00003
NM_001322934.2(NFKB2):c.2293+9C>T rs752429321 0.00002
NM_001322934.2(NFKB2):c.2559A>T (p.Arg853=) rs1304804019 0.00002
NM_001322934.2(NFKB2):c.2578+7G>A rs749032341 0.00002
NM_001322934.2(NFKB2):c.2601G>A (p.Ala867=) rs1438477157 0.00002
NM_001322934.2(NFKB2):c.345G>A (p.Ser115=) rs548502111 0.00002
NM_001322934.2(NFKB2):c.502+16G>T rs889117789 0.00002
NM_001322934.2(NFKB2):c.1395C>T (p.Gly465=) rs1196791753 0.00001
NM_001322934.2(NFKB2):c.145-15C>T rs529004645 0.00001
NM_001322934.2(NFKB2):c.145-4T>G rs374924291 0.00001
NM_001322934.2(NFKB2):c.1470-15C>A rs758172818 0.00001
NM_001322934.2(NFKB2):c.1585-16C>G rs1393147833 0.00001
NM_001322934.2(NFKB2):c.1585-17C>T rs375242665 0.00001
NM_001322934.2(NFKB2):c.1701G>A (p.Ala567=) rs772477531 0.00001
NM_001322934.2(NFKB2):c.1776G>A (p.Leu592=) rs571236055 0.00001
NM_001322934.2(NFKB2):c.1799-13C>T rs918533916 0.00001
NM_001322934.2(NFKB2):c.1878G>A (p.Val626=) rs773380243 0.00001
NM_001322934.2(NFKB2):c.1969-10G>A rs747889400 0.00001
NM_001322934.2(NFKB2):c.1969-7C>T rs746920543 0.00001
NM_001322934.2(NFKB2):c.2043G>A (p.Pro681=) rs757196237 0.00001
NM_001322934.2(NFKB2):c.2072-17C>T rs756130328 0.00001
NM_001322934.2(NFKB2):c.21+15C>T rs1318527251 0.00001
NM_001322934.2(NFKB2):c.2148C>T (p.Asp716=) rs367660052 0.00001
NM_001322934.2(NFKB2):c.2196G>A (p.Thr732=) rs369544913 0.00001
NM_001322934.2(NFKB2):c.2298G>A (p.Pro766=) rs375500980 0.00001
NM_001322934.2(NFKB2):c.2302C>T (p.Leu768=) rs1554991897 0.00001
NM_001322934.2(NFKB2):c.2418G>A (p.Thr806=) rs1488705625 0.00001
NM_001322934.2(NFKB2):c.2430A>C (p.Thr810=) rs1589872751 0.00001
NM_001322934.2(NFKB2):c.2467-15C>T rs1176473181 0.00001
NM_001322934.2(NFKB2):c.2518C>T (p.Leu840=) rs765424403 0.00001
NM_001322934.2(NFKB2):c.2556C>T (p.Thr852=) rs1169027638 0.00001
NM_001322934.2(NFKB2):c.273C>T (p.Ile91=) rs762145275 0.00001
NM_001322934.2(NFKB2):c.360C>T (p.Cys120=) rs373367494 0.00001
NM_001322934.2(NFKB2):c.396-5C>T rs373971415 0.00001
NM_001322934.2(NFKB2):c.502+9G>A rs183218508 0.00001
NM_001322934.2(NFKB2):c.549G>A (p.Lys183=) rs367930950 0.00001
NM_001322934.2(NFKB2):c.585T>C (p.Ser195=) rs543351754 0.00001
NM_001322934.2(NFKB2):c.924A>G (p.Gln308=) rs1477050280 0.00001
NC_000010.11:g.102397406CGGGTATGGGTGCAGGGGGTGGGT[3]
NM_001322934.2(NFKB2):c.*76C>T
NM_001322934.2(NFKB2):c.1020G>A (p.Arg340=)
NM_001322934.2(NFKB2):c.1027T>C (p.Leu343=)
NM_001322934.2(NFKB2):c.103+10T>C rs1251667593
NM_001322934.2(NFKB2):c.1035C>T (p.Thr345=)
NM_001322934.2(NFKB2):c.1089A>G (p.Ala363=)
NM_001322934.2(NFKB2):c.1092C>T (p.Ala364=)
NM_001322934.2(NFKB2):c.1110T>C (p.Ala370=)
NM_001322934.2(NFKB2):c.1117+15_1117+17del
NM_001322934.2(NFKB2):c.114C>T (p.Pro38=)
NM_001322934.2(NFKB2):c.1357C>T (p.Leu453=)
NM_001322934.2(NFKB2):c.1368C>A (p.Arg456=) rs1368578412
NM_001322934.2(NFKB2):c.1374C>G (p.Ala458=)
NM_001322934.2(NFKB2):c.1374C>T (p.Ala458=)
NM_001322934.2(NFKB2):c.1380C>T (p.Ala460=)
NM_001322934.2(NFKB2):c.1383A>C (p.Leu461=)
NM_001322934.2(NFKB2):c.1398C>T (p.Val466=) rs1589865966
NM_001322934.2(NFKB2):c.144+17G>C
NM_001322934.2(NFKB2):c.1446G>C (p.Thr482=) rs2135436054
NM_001322934.2(NFKB2):c.145-5T>G rs2135429394
NM_001322934.2(NFKB2):c.1458G>A (p.Glu486=)
NM_001322934.2(NFKB2):c.1461C>T (p.Asn487=)
NM_001322934.2(NFKB2):c.1469+12A>C rs2061192313
NM_001322934.2(NFKB2):c.1469+13G>C rs892036144
NM_001322934.2(NFKB2):c.1470-15C>T
NM_001322934.2(NFKB2):c.1470-17C>G rs1436691362
NM_001322934.2(NFKB2):c.1470-7C>T
NM_001322934.2(NFKB2):c.1476G>A (p.Leu492=)
NM_001322934.2(NFKB2):c.1497G>A (p.Gly499=)
NM_001322934.2(NFKB2):c.1545G>A (p.Gln515=) rs776155769
NM_001322934.2(NFKB2):c.1584+10C>A
NM_001322934.2(NFKB2):c.1584+10C>T rs1371555123
NM_001322934.2(NFKB2):c.1584+20G>A
NM_001322934.2(NFKB2):c.1584+9G>T rs1195678530
NM_001322934.2(NFKB2):c.1585-8A>C rs1589867408
NM_001322934.2(NFKB2):c.1596C>T (p.His532=)
NM_001322934.2(NFKB2):c.159T>C (p.Phe53=) rs753714205
NM_001322934.2(NFKB2):c.1629G>A (p.Val543=) rs2135437613
NM_001322934.2(NFKB2):c.1656C>T (p.Asp552=) rs2135437654
NM_001322934.2(NFKB2):c.1683C>T (p.Asp561=)
NM_001322934.2(NFKB2):c.1713C>T (p.Gly571=)
NM_001322934.2(NFKB2):c.1767G>A (p.Val589=)
NM_001322934.2(NFKB2):c.177C>T (p.Gly59=)
NM_001322934.2(NFKB2):c.1799-10G>A
NM_001322934.2(NFKB2):c.1845C>T (p.Cys615=)
NM_001322934.2(NFKB2):c.1857G>A (p.Leu619=)
NM_001322934.2(NFKB2):c.1890G>A (p.Glu630=)
NM_001322934.2(NFKB2):c.1917T>C (p.His639=)
NM_001322934.2(NFKB2):c.1926A>G (p.Thr642=) rs1309682474
NM_001322934.2(NFKB2):c.1950C>G (p.Val650=)
NM_001322934.2(NFKB2):c.1968+12G>A
NM_001322934.2(NFKB2):c.1968+18G>A rs1438308031
NM_001322934.2(NFKB2):c.1969-10G>T
NM_001322934.2(NFKB2):c.1969-11C>T
NM_001322934.2(NFKB2):c.1969-18C>T
NM_001322934.2(NFKB2):c.1971C>G (p.Leu657=) rs1235585705
NM_001322934.2(NFKB2):c.1977C>A (p.Ala659=)
NM_001322934.2(NFKB2):c.1986C>T (p.Asn662=)
NM_001322934.2(NFKB2):c.198C>T (p.Pro66=) rs778061308
NM_001322934.2(NFKB2):c.2055C>T (p.Arg685=)
NM_001322934.2(NFKB2):c.2071+10del
NM_001322934.2(NFKB2):c.2071+15C>T
NM_001322934.2(NFKB2):c.2071+9C>T
NM_001322934.2(NFKB2):c.2072-11C>A
NM_001322934.2(NFKB2):c.2072-15G>A rs2061235937
NM_001322934.2(NFKB2):c.2072-20T>C
NM_001322934.2(NFKB2):c.21+18C>T
NM_001322934.2(NFKB2):c.2106G>A (p.Leu702=) rs765756267
NM_001322934.2(NFKB2):c.2124C>G (p.Pro708=) rs1461595391
NM_001322934.2(NFKB2):c.2145G>T (p.Ser715=)
NM_001322934.2(NFKB2):c.219C>T (p.Gly73=) rs1468635663
NM_001322934.2(NFKB2):c.2223+13C>T
NM_001322934.2(NFKB2):c.2223+14G>A
NM_001322934.2(NFKB2):c.2223+15G>A
NM_001322934.2(NFKB2):c.2223+18C>T
NM_001322934.2(NFKB2):c.2223+20A>G
NM_001322934.2(NFKB2):c.2224-10del
NM_001322934.2(NFKB2):c.2232C>G (p.Thr744=)
NM_001322934.2(NFKB2):c.2265G>A (p.Glu755=)
NM_001322934.2(NFKB2):c.2293+15G>A rs2135440881
NM_001322934.2(NFKB2):c.2293+19C>T rs2135440888
NM_001322934.2(NFKB2):c.2294-11G>A
NM_001322934.2(NFKB2):c.2294-16T>C
NM_001322934.2(NFKB2):c.2294-18T>C
NM_001322934.2(NFKB2):c.2304G>A (p.Leu768=)
NM_001322934.2(NFKB2):c.231T>C (p.Tyr77=) rs2135429535
NM_001322934.2(NFKB2):c.2332C>T (p.Leu778=)
NM_001322934.2(NFKB2):c.2412A>G (p.Val804=)
NM_001322934.2(NFKB2):c.244-11G>T rs370015116
NM_001322934.2(NFKB2):c.244-5C>T
NM_001322934.2(NFKB2):c.2445C>T (p.Gly815=)
NM_001322934.2(NFKB2):c.2466+11C>A rs2135442112
NM_001322934.2(NFKB2):c.2496G>A (p.Leu832=)
NM_001322934.2(NFKB2):c.2571C>T (p.Pro857=)
NM_001322934.2(NFKB2):c.2578+13C>T
NM_001322934.2(NFKB2):c.2578+9G>A
NM_001322934.2(NFKB2):c.2579-13C>G
NM_001322934.2(NFKB2):c.2579-6C>T
NM_001322934.2(NFKB2):c.2598T>C (p.Ser866=)
NM_001322934.2(NFKB2):c.2601G>C (p.Ala867=) rs1438477157
NM_001322934.2(NFKB2):c.2652T>C (p.Pro884=)
NM_001322934.2(NFKB2):c.2682C>T (p.His894=) rs1393546647
NM_001322934.2(NFKB2):c.279G>A (p.Val93=) rs1313856840
NM_001322934.2(NFKB2):c.285G>C (p.Leu95=)
NM_001322934.2(NFKB2):c.315T>C (p.His105=)
NM_001322934.2(NFKB2):c.321C>T (p.His107=) rs1327128300
NM_001322934.2(NFKB2):c.325C>T (p.Leu109=) rs118178925
NM_001322934.2(NFKB2):c.357C>A (p.Ile119=) rs747137315
NM_001322934.2(NFKB2):c.395+10C>T
NM_001322934.2(NFKB2):c.395+15C>A
NM_001322934.2(NFKB2):c.395+15C>G
NM_001322934.2(NFKB2):c.395+15C>T rs747767183
NM_001322934.2(NFKB2):c.395+16G>A
NM_001322934.2(NFKB2):c.396-19T>G rs1318736194
NM_001322934.2(NFKB2):c.396-7_396-6del
NM_001322934.2(NFKB2):c.396-9T>C
NM_001322934.2(NFKB2):c.402C>T (p.Asn134=) rs1815693368
NM_001322934.2(NFKB2):c.415C>T (p.Leu139=)
NM_001322934.2(NFKB2):c.420T>C (p.His140=) rs2135430349
NM_001322934.2(NFKB2):c.471G>A (p.Gln157=)
NM_001322934.2(NFKB2):c.472C>A (p.Arg158=)
NM_001322934.2(NFKB2):c.474G>C (p.Arg158=)
NM_001322934.2(NFKB2):c.498T>C (p.Leu166=)
NM_001322934.2(NFKB2):c.502+11A>G
NM_001322934.2(NFKB2):c.502+15G>A
NM_001322934.2(NFKB2):c.502+20G>A
NM_001322934.2(NFKB2):c.503-15G>A
NM_001322934.2(NFKB2):c.503-5C>T
NM_001322934.2(NFKB2):c.507C>T (p.Ala169=) rs769444840
NM_001322934.2(NFKB2):c.541C>T (p.Leu181=) rs1362312596
NM_001322934.2(NFKB2):c.573G>C (p.Arg191=)
NM_001322934.2(NFKB2):c.576G>A (p.Leu192=) rs2135431070
NM_001322934.2(NFKB2):c.588C>T (p.Ala196=) rs2061140684
NM_001322934.2(NFKB2):c.609C>T (p.Gly203=)
NM_001322934.2(NFKB2):c.633A>G (p.Pro211=)
NM_001322934.2(NFKB2):c.645G>A (p.Gln215=)
NM_001322934.2(NFKB2):c.766+10G>A rs2135431906
NM_001322934.2(NFKB2):c.766+12G>A
NM_001322934.2(NFKB2):c.766+15C>T
NM_001322934.2(NFKB2):c.766+20T>C
NM_001322934.2(NFKB2):c.766+8T>G
NM_001322934.2(NFKB2):c.767-14C>T
NM_001322934.2(NFKB2):c.767-6T>C
NM_001322934.2(NFKB2):c.767-7C>G rs1001922617
NM_001322934.2(NFKB2):c.767-7C>T rs1001922617
NM_001322934.2(NFKB2):c.767-8C>T
NM_001322934.2(NFKB2):c.852+12T>C
NM_001322934.2(NFKB2):c.852+13A>C
NM_001322934.2(NFKB2):c.852+18C>G
NM_001322934.2(NFKB2):c.852+19C>A rs769240579
NM_001322934.2(NFKB2):c.852+19C>G
NM_001322934.2(NFKB2):c.852+19C>T rs769240579
NM_001322934.2(NFKB2):c.852+20G>A
NM_001322934.2(NFKB2):c.852+24_852+29del
NM_001322934.2(NFKB2):c.852+9G>A
NM_001322934.2(NFKB2):c.853-11G>A
NM_001322934.2(NFKB2):c.853-14C>T
NM_001322934.2(NFKB2):c.853-15C>A rs1298584675
NM_001322934.2(NFKB2):c.853-19G>A
NM_001322934.2(NFKB2):c.853-8C>T
NM_001322934.2(NFKB2):c.885C>T (p.His295=) rs1458951523
NM_001322934.2(NFKB2):c.991+14G>A
NM_001322934.2(NFKB2):c.992-12C>G
NM_001322934.2(NFKB2):c.992-5C>T rs1589863248

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