ClinVar Miner

List of variants in gene NFKB2 studied for agammaglobulinemia

Included ClinVar conditions (31):
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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NC_000010.10:g.(?_104155697)_(104162153_?)dup
NM_001077494.3(NFKB2):c.2574_2578delCACAG (p.Thr859Argfs) rs1565214594
NM_001077494.3(NFKB2):c.992-3delC
NM_001322934.2(NFKB2):c.1097G>A (p.Gly366Asp) rs747854969
NM_001322934.2(NFKB2):c.1163A>G (p.Tyr388Cys)
NM_001322934.2(NFKB2):c.1170C>A (p.Ser390=) rs1200632324
NM_001322934.2(NFKB2):c.1229C>T (p.Thr410Met)
NM_001322934.2(NFKB2):c.1262C>T (p.Ala421Val)
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)
NM_001322934.2(NFKB2):c.1340A>G (p.Asn447Ser)
NM_001322934.2(NFKB2):c.1378G>A (p.Ala460Thr)
NM_001322934.2(NFKB2):c.1386C>G (p.Leu462=) rs762807587
NM_001322934.2(NFKB2):c.14A>G (p.Tyr5Cys)
NM_001322934.2(NFKB2):c.1519A>G (p.Ile507Val)
NM_001322934.2(NFKB2):c.1608C>A (p.Ile536=) rs34916280
NM_001322934.2(NFKB2):c.1715C>G (p.Ala572Gly)
NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His) rs200227171
NM_001322934.2(NFKB2):c.1741C>G (p.Leu581Val)
NM_001322934.2(NFKB2):c.1744C>T (p.Leu582Phe)
NM_001322934.2(NFKB2):c.1821= (p.Ala607=) rs4919634
NM_001322934.2(NFKB2):c.1826G>A (p.Arg609Gln) rs200092317
NM_001322934.2(NFKB2):c.1869G>A (p.Gly623=) rs138786808
NM_001322934.2(NFKB2):c.1892G>T (p.Arg631Leu)
NM_001322934.2(NFKB2):c.1962C>T (p.Val654=) rs201623844
NM_001322934.2(NFKB2):c.2001G>A (p.Ala667=)
NM_001322934.2(NFKB2):c.2072-3C>T rs201550645
NM_001322934.2(NFKB2):c.2086G>A (p.Ala696Thr)
NM_001322934.2(NFKB2):c.2094C>T (p.Asn698=) rs11574851
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038
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)
NM_001322934.2(NFKB2):c.2186G>A (p.Arg729Gln)
NM_001322934.2(NFKB2):c.2239C>T (p.Leu747=) rs11191279
NM_001322934.2(NFKB2):c.2286C>T (p.Ser762=) rs899733509
NM_001322934.2(NFKB2):c.2333T>C (p.Leu778Pro) rs1565213628
NM_001322934.2(NFKB2):c.2350G>A (p.Gly784Arg)
NM_001322934.2(NFKB2):c.2418G>A (p.Thr806=) rs1488705625
NM_001322934.2(NFKB2):c.2467-9T>A rs11574853
NM_001322934.2(NFKB2):c.2544_2547delinsCCTCGG (p.Arg848fs)
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.2579C>G (p.Ala860Gly) rs371190206
NM_001322934.2(NFKB2):c.2594A>G (p.Asp865Gly) rs727502787
NM_001322934.2(NFKB2):c.2597G>A (p.Ser866Asn)
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001322934.2(NFKB2):c.2601G>A (p.Ala867=) rs1438477157
NM_001322934.2(NFKB2):c.292C>A (p.His98Asn)
NM_001322934.2(NFKB2):c.396-5C>T rs373971415
NM_001322934.2(NFKB2):c.40G>A (p.Glu14Lys) rs45581936
NM_001322934.2(NFKB2):c.74T>C (p.Val25Ala)
NM_001322934.2(NFKB2):c.921G>A (p.Leu307=) rs146926941

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