ClinVar Miner

List of variants studied for agammaglobulinemia by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000061.3(BTK):c.726dup (p.Ile243fs) rs1569292774
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
NM_006060.6(IKZF1):c.546C>A (p.Cys182Ter) rs530073586

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