ClinVar Miner

List of variants in gene NFKB2 reported as uncertain significance for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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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.1163A>G (p.Tyr388Cys)
NM_001322934.2(NFKB2):c.1229C>T (p.Thr410Met)
NM_001322934.2(NFKB2):c.1262C>T (p.Ala421Val)
NM_001322934.2(NFKB2):c.1285A>T (p.Thr429Ser) rs1405716353
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.14A>G (p.Tyr5Cys)
NM_001322934.2(NFKB2):c.1519A>G (p.Ile507Val)
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.1892G>T (p.Arg631Leu)
NM_001322934.2(NFKB2):c.2001G>A (p.Ala667=)
NM_001322934.2(NFKB2):c.2086G>A (p.Ala696Thr)
NM_001322934.2(NFKB2):c.2174G>A (p.Arg725Gln)
NM_001322934.2(NFKB2):c.2186G>A (p.Arg729Gln)
NM_001322934.2(NFKB2):c.2333T>C (p.Leu778Pro) rs1565213628
NM_001322934.2(NFKB2):c.2350G>A (p.Gly784Arg)
NM_001322934.2(NFKB2):c.2544_2547delinsCCTCGG (p.Arg848fs)
NM_001322934.2(NFKB2):c.2579C>G (p.Ala860Gly) rs371190206
NM_001322934.2(NFKB2):c.2597G>A (p.Ser866Asn)
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001322934.2(NFKB2):c.292C>A (p.His98Asn)
NM_001322934.2(NFKB2):c.74T>C (p.Val25Ala)
NM_001322934.2(NFKB2):c.992-3del

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