ClinVar Miner

List of variants reported as uncertain significance for autosomal agammaglobulinemia by Baylor Genetics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) rs148797987 0.00126
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) rs149986237 0.00115
NM_013314.4(BLNK):c.178G>A (p.Glu60Lys) rs148249957 0.00056
NM_001783.4(CD79A):c.269C>T (p.Thr90Met) rs137953079 0.00028
NM_013314.4(BLNK):c.205-15C>T rs199854336 0.00027
NM_001783.4(CD79A):c.134G>C (p.Ser45Thr) rs199603062 0.00024
NM_019594.4(LRRC8A):c.2267del (p.Leu756fs) rs1840810037

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