ClinVar Miner

List of variants in gene BLNK reported as benign for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_013314.3(BLNK):c.195C>T (p.Ser65=) rs12261820
NM_013314.3(BLNK):c.262G>A (p.Ala88Thr) rs144903484
NM_013314.3(BLNK):c.270G>A (p.Glu90=) rs17111469
NM_013314.3(BLNK):c.472G>T (p.Ala158Ser) rs148612299
NM_013314.3(BLNK):c.48G>A (p.Arg16=) rs11540858
NM_013314.3(BLNK):c.526-5G>C rs17111459

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