ClinVar Miner

List of variants studied for agammaglobulinemia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000061.2(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000626.4(CD79B):c.414A>G (p.Thr138=) rs1567810051
NM_001006658.2(CR2):c.1210C>G (p.Pro404Ala) rs148388565
NM_001006658.2(CR2):c.3187C>T (p.Arg1063Cys) rs145499318
NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His) rs200227171
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798
NM_001364905.1(LRBA):c.2849G>T (p.Cys950Phe)
NM_001364905.1(LRBA):c.3914G>C (p.Arg1305Pro) rs144754728
NM_001364905.1(LRBA):c.6445_6446AG[1] (p.Arg2149fs) rs1561254290
NM_001770.6(CD19):c.178C>T (p.Pro60Ser)
NM_001877.5(CR2):c.1979-205C>T rs142648420
NM_003200.5(TCF3):c.1823-416G>A rs1568312916
NM_003200.5(TCF3):c.229G>A (p.Glu77Lys) rs138963927
NM_003200.5(TCF3):c.307G>A (p.Gly103Ser)
NM_004356.3(CD81):c.182-5G>A rs562261414
NM_012452.2(TNFRSF13B):c.145T>C (p.Ser49Pro) rs374547688
NM_021950.3(MS4A1):c.315G>C (p.Glu105Asp) rs267603055
NM_181523.3(PIK3R1):c.917-1513G>T rs144312303

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