ClinVar Miner

List of variants reported as pathogenic for agammaglobulinemia by Samuels research lab,Centre de Recherche du CHU Ste-Justine

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001322934.2(NFKB2):c.2556_2563del (p.Arg853fs) rs727502786
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001322934.2(NFKB2):c.2594A>G (p.Asp865Gly) rs727502787
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788

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