ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_013314.4(BLNK):c.48-52T>A rs2168732 0.81631
NM_013314.4(BLNK):c.361+71G>A rs11188669 0.58528
NM_013314.4(BLNK):c.1096-11A>T rs74151283 0.05315
NM_013314.4(BLNK):c.48G>A (p.Arg16=) rs11540858 0.03732
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.270G>A (p.Glu90=) rs17111469 0.00302
NM_013314.4(BLNK):c.262G>A (p.Ala88Thr) rs144903484 0.00175
NM_013314.4(BLNK):c.132T>A (p.Pro44=) rs147203646 0.00125
NM_013314.4(BLNK):c.1096-16A>T rs80026049 0.00035
NM_013314.4(BLNK):c.744C>T (p.Ala248=) rs147455437 0.00005
NM_013314.4(BLNK):c.164-9C>T rs587723501 0.00001
NM_013314.4(BLNK):c.1096-17del rs201454460
NM_013314.4(BLNK):c.1096-9dup
NM_013314.4(BLNK):c.171T>C (p.Pro57=) rs727852
NM_013314.4(BLNK):c.48-5dup
NM_013314.4(BLNK):c.608-22CA[5] rs200821324
NM_013314.4(BLNK):c.775-12del

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