ClinVar Miner

List of variants in gene NFKB2 studied for agammaglobulinemia

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP
NC_000010.10:g.(?_104155697)_(104162153_?)dup
NM_001322934.2(NFKB2):c.1097G>A (p.Gly366Asp) rs747854969
NM_001322934.2(NFKB2):c.1103G>A (p.Gly368Glu)
NM_001322934.2(NFKB2):c.1117+7G>T rs188346889
NM_001322934.2(NFKB2):c.1137C>T (p.Phe379=) rs920445238
NM_001322934.2(NFKB2):c.1163A>G (p.Tyr388Cys) rs758025082
NM_001322934.2(NFKB2):c.1170C>A (p.Ser390=) rs1200632324
NM_001322934.2(NFKB2):c.118C>T (p.Leu40=) rs368708648
NM_001322934.2(NFKB2):c.1212G>T (p.Gly404=) rs55847683
NM_001322934.2(NFKB2):c.1214C>T (p.Ala405Val)
NM_001322934.2(NFKB2):c.1229C>T (p.Thr410Met) rs1175800328
NM_001322934.2(NFKB2):c.1242G>C (p.Arg414Ser)
NM_001322934.2(NFKB2):c.1262C>T (p.Ala421Val) rs780831146
NM_001322934.2(NFKB2):c.1269= (p.Pro423=) rs4919633
NM_001322934.2(NFKB2):c.1285A>T (p.Thr429Ser) rs1405716353
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser) rs202001697
NM_001322934.2(NFKB2):c.1296C>T (p.Cys432=) rs192635220
NM_001322934.2(NFKB2):c.1301C>T (p.Pro434Leu) rs1024428958
NM_001322934.2(NFKB2):c.1310C>T (p.Pro437Leu)
NM_001322934.2(NFKB2):c.1331G>A (p.Arg444Gln)
NM_001322934.2(NFKB2):c.1340A>G (p.Asn447Ser) rs1209220432
NM_001322934.2(NFKB2):c.1369A>C (p.Ser457Arg)
NM_001322934.2(NFKB2):c.1378G>A (p.Ala460Thr) rs778522439
NM_001322934.2(NFKB2):c.1386C>G (p.Leu462=) rs762807587
NM_001322934.2(NFKB2):c.14A>G (p.Tyr5Cys) rs200361192
NM_001322934.2(NFKB2):c.1519A>G (p.Ile507Val) rs1589867038
NM_001322934.2(NFKB2):c.1590C>T (p.Pro530=) rs369780227
NM_001322934.2(NFKB2):c.1608C>A (p.Ile536=) rs34916280
NM_001322934.2(NFKB2):c.1692G>A (p.Met564Ile)
NM_001322934.2(NFKB2):c.1715C>G (p.Ala572Gly) rs997689416
NM_001322934.2(NFKB2):c.1735C>T (p.Arg579Cys)
NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His) rs200227171
NM_001322934.2(NFKB2):c.1741C>G (p.Leu581Val) rs1589867877
NM_001322934.2(NFKB2):c.1744C>T (p.Leu582Phe) rs1589867900
NM_001322934.2(NFKB2):c.1772A>T (p.Gln591Leu)
NM_001322934.2(NFKB2):c.1821= (p.Ala607=) rs4919634
NM_001322934.2(NFKB2):c.1826G>A (p.Arg609Gln) rs200092317
NM_001322934.2(NFKB2):c.1832G>A (p.Arg611Gln)
NM_001322934.2(NFKB2):c.1869G>A (p.Gly623=) rs138786808
NM_001322934.2(NFKB2):c.1892G>T (p.Arg631Leu) rs757608785
NM_001322934.2(NFKB2):c.1904G>A (p.Arg635Gln)
NM_001322934.2(NFKB2):c.1938G>A (p.Glu646=) rs563687760
NM_001322934.2(NFKB2):c.1962C>T (p.Val654=) rs201623844
NM_001322934.2(NFKB2):c.1972C>T (p.Arg658Trp)
NM_001322934.2(NFKB2):c.1973G>A (p.Arg658Gln)
NM_001322934.2(NFKB2):c.1980C>A (p.Asn660Lys)
NM_001322934.2(NFKB2):c.1980C>T (p.Asn660=) rs770000992
NM_001322934.2(NFKB2):c.1993A>T (p.Thr665Ser)
NM_001322934.2(NFKB2):c.2001G>A (p.Ala667=) rs944124507
NM_001322934.2(NFKB2):c.2067G>A (p.Lys689=) rs745876650
NM_001322934.2(NFKB2):c.2072-3C>T rs201550645
NM_001322934.2(NFKB2):c.2086G>A (p.Ala696Thr) rs377677859
NM_001322934.2(NFKB2):c.2094C>T (p.Asn698=) rs11574851
NM_001322934.2(NFKB2):c.2122C>G (p.Pro708Ala)
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038
NM_001322934.2(NFKB2):c.2146G>T (p.Asp716Tyr) rs1589870841
NM_001322934.2(NFKB2):c.2167G>A (p.Asp723Asn) rs199577673
NM_001322934.2(NFKB2):c.216G>A (p.Lys72=) rs369551276
NM_001322934.2(NFKB2):c.2174G>A (p.Arg725Gln) rs374942288
NM_001322934.2(NFKB2):c.2186G>A (p.Arg729Gln) rs201099063
NM_001322934.2(NFKB2):c.2239C>T (p.Leu747=) rs11191279
NM_001322934.2(NFKB2):c.2249C>G (p.Ala750Gly)
NM_001322934.2(NFKB2):c.2249C>T (p.Ala750Val) rs41293042
NM_001322934.2(NFKB2):c.2278C>T (p.Pro760Ser)
NM_001322934.2(NFKB2):c.2286C>T (p.Ser762=) rs899733509
NM_001322934.2(NFKB2):c.2288C>T (p.Pro763Leu)
NM_001322934.2(NFKB2):c.2333T>C (p.Leu778Pro) rs1565213628
NM_001322934.2(NFKB2):c.2349C>A (p.Asp783Glu)
NM_001322934.2(NFKB2):c.2349C>T (p.Asp783=) rs762058625
NM_001322934.2(NFKB2):c.2350G>A (p.Gly784Arg) rs367889547
NM_001322934.2(NFKB2):c.2423G>A (p.Arg808Gln)
NM_001322934.2(NFKB2):c.2459G>A (p.Ser820Asn)
NM_001322934.2(NFKB2):c.2466+3G>A
NM_001322934.2(NFKB2):c.2467-9T>A rs11574853
NM_001322934.2(NFKB2):c.2479G>A (p.Asp827Asn)
NM_001322934.2(NFKB2):c.2512A>T (p.Met838Leu)
NM_001322934.2(NFKB2):c.2544_2547delinsCCTCGG (p.Arg848fs) rs1589873803
NM_001322934.2(NFKB2):c.2556_2563del (p.Arg853fs) rs727502786
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) rs397514331
NM_001322934.2(NFKB2):c.2571_2575CAGCA[1] (p.Thr859fs) rs1565214594
NM_001322934.2(NFKB2):c.2579C>G (p.Ala860Gly) rs371190206
NM_001322934.2(NFKB2):c.2594A>G (p.Asp865Gly) rs727502787
NM_001322934.2(NFKB2):c.2595_2596del (p.Asp865fs)
NM_001322934.2(NFKB2):c.2597G>A (p.Ser866Asn) rs1565215008
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001322934.2(NFKB2):c.2604C>T (p.Tyr868=) rs778242288
NM_001322934.2(NFKB2):c.2611C>T (p.Gln871Ter)
NM_001322934.2(NFKB2):c.2676C>T (p.His892=) rs572862942
NM_001322934.2(NFKB2):c.292C>A (p.His98Asn) rs1589859604
NM_001322934.2(NFKB2):c.396-5C>T rs373971415
NM_001322934.2(NFKB2):c.40G>A (p.Glu14Lys) rs45581936
NM_001322934.2(NFKB2):c.472C>T (p.Arg158Trp)
NM_001322934.2(NFKB2):c.4G>A (p.Glu2Lys)
NM_001322934.2(NFKB2):c.579C>T (p.Arg193=) rs766437395
NM_001322934.2(NFKB2):c.742C>G (p.Leu248Val)
NM_001322934.2(NFKB2):c.74T>C (p.Val25Ala) rs1379133748
NM_001322934.2(NFKB2):c.766+1G>A
NM_001322934.2(NFKB2):c.840T>C (p.Asp280=) rs199585223
NM_001322934.2(NFKB2):c.85G>C (p.Glu29Gln)
NM_001322934.2(NFKB2):c.921G>A (p.Leu307=) rs146926941
NM_001322934.2(NFKB2):c.924A>G (p.Gln308=)
NM_001322934.2(NFKB2):c.978C>T (p.Tyr326=) rs2295587
NM_001322934.2(NFKB2):c.991+5A>G
NM_001322934.2(NFKB2):c.992-3del rs1589863240
NM_001322934.2(NFKB2):c.992-5C>T rs1589863248
NM_001322934.2(NFKB2):c.9T>C (p.Ser3=) rs748114844

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