ClinVar Miner

List of variants reported as pathogenic for Agammaglobulinemia 4, autosomal recessive

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_013314.4(BLNK):c.1195C>T (p.Arg399Ter) rs1554894837 0.00001
NC_000010.11:g.(?_96271332)_(96271418_?)del
NM_013314.3(BLNK):c.114delG rs1554906579
NM_013314.4(BLNK):c.1031del (p.Lys344fs) rs2133946382
NM_013314.4(BLNK):c.26del (p.Val9fs)
NM_013314.4(BLNK):c.47+3A>T rs2134166251

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