ClinVar Miner

List of variants reported as likely benign for agammaglobulinemia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NC_000014.9:g.105854900G>T
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser) rs202001697
NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=)
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541
NM_001770.5(CD19):c.381G>A (p.Ser127=) rs142342927
NM_001770.5(CD19):c.390T>A (p.Gly130=) rs573154781
NM_003200.5(TCF3):c.1806G>A (p.Leu602=)
NM_003200.5(TCF3):c.879_881CTC[1] (p.Ser295del)
NM_003200.5(TCF3):c.888C>T (p.Ala296=)
NM_012092.3(ICOS):c.451G>C (p.Val151Leu) rs76778263
NM_019594.3(LRRC8A):c.1699G>A (p.Val567Met) rs143836544
NM_052945.3(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394

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