ClinVar Miner

List of variants studied for Agammaglobulinemia 4, autosomal recessive by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_013314.4(BLNK):c.195C>T (p.Ser65=) rs12261820 0.01993
NM_013314.4(BLNK):c.526-5G>C rs17111459 0.01232
NM_013314.4(BLNK):c.362-17T>C rs118063042 0.00879
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_013314.4(BLNK):c.1020C>T (p.Gly340=) rs375535673

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