ClinVar Miner

List of variants reported as uncertain significance for agammaglobulinemia by Mendelics

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.118T>C (p.Trp40Arg) rs72553874 0.00007
NM_005026.5(PIK3CD):c.1714C>T (p.Pro572Ser) rs1570385564 0.00001
NM_001322934.2(NFKB2):c.2146G>T (p.Asp716Tyr) rs1589870841
NM_001364905.1(LRBA):c.1291T>C (p.Cys431Arg) rs778235929

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