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: 14
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NM_000061.2(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_001006658.2(CR2):c.1210C>G (p.Pro404Ala)
NM_001006658.2(CR2):c.2030C>T (p.Thr677Met)
NM_001039933.2(CD79B):c.417A>G (p.Thr139=)
NM_001077494.3(NFKB2):c.1736G>A (p.Arg579His) rs200227171
NM_001136139.4(TCF3):c.1755G>A (p.Lys585=)
NM_001136139.4(TCF3):c.229G>A (p.Glu77Lys)
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr)
NM_001364905.1(LRBA):c.3914G>C (p.Arg1305Pro)
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149Serfs)
NM_012452.2(TNFRSF13B):c.145T>C (p.Ser49Pro)
NM_152866.2(MS4A1):c.315G>C (p.Glu105Asp)

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