ClinVar Miner

List of variants reported as uncertain significance for Common variable immunodeficiency 3

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Total variants: 36
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HGVS dbSNP
NM_001178098.2(CD19):c.1638del (p.Gly547fs) rs774006181
NM_001770.5(CD19):c.*100T>C rs766679967
NM_001770.5(CD19):c.*11G>A rs535901247
NM_001770.5(CD19):c.*151G>A rs879933623
NM_001770.5(CD19):c.*180C>T rs886051890
NM_001770.5(CD19):c.*37A>G rs756122612
NM_001770.5(CD19):c.*71C>T rs886051888
NM_001770.5(CD19):c.-16G>A rs201081926
NM_001770.5(CD19):c.1042T>C (p.Tyr348His) rs1596717340
NM_001770.5(CD19):c.1204G>A (p.Glu402Lys) rs886051887
NM_001770.5(CD19):c.1274C>T (p.Ser425Phe) rs142818579
NM_001770.5(CD19):c.1371C>T (p.Asn457=) rs199570434
NM_001770.5(CD19):c.1580-14C>T rs376505803
NM_001770.5(CD19):c.1580-4C>A rs148808609
NM_001770.5(CD19):c.171G>A (p.Pro57=) rs199665700
NM_001770.5(CD19):c.17T>G (p.Leu6Arg) rs886051886
NM_001770.5(CD19):c.384C>T (p.Asp128=) rs200748731
NM_001770.5(CD19):c.390T>A (p.Gly130=) rs573154781
NM_001770.5(CD19):c.395T>G (p.Leu132Arg) rs146795664
NM_001770.5(CD19):c.527C>T (p.Pro176Leu) rs148200569
NM_001770.5(CD19):c.835+3A>G rs374608144
NM_001770.5(CD19):c.836-13C>G rs371868433
NM_001770.6(CD19):c.*204A>G
NM_001770.6(CD19):c.*65A>G
NM_001770.6(CD19):c.1469G>A (p.Arg490Gln)
NM_001770.6(CD19):c.147G>A (p.Gln49=) rs140445039
NM_001770.6(CD19):c.178C>T (p.Pro60Ser) rs1010611591
NM_001770.6(CD19):c.246T>C (p.Leu82=)
NM_001770.6(CD19):c.323A>C (p.Gln108Pro)
NM_001770.6(CD19):c.488G>A (p.Arg163His)
NM_001770.6(CD19):c.530G>C (p.Arg177Thr)
NM_001770.6(CD19):c.61G>C (p.Glu21Gln)
NM_001770.6(CD19):c.687G>C (p.Glu229Asp)
NM_001770.6(CD19):c.788G>A (p.Arg263His)
NM_001770.6(CD19):c.846C>A (p.His282Gln)
NM_001770.6(CD19):c.988A>G (p.Thr330Ala)

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