ClinVar Miner

List of variants reported as likely pathogenic for Common variable immunodeficiency 2

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Total variants: 8
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NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter)
NM_012452.2(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875
NM_012452.2(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.311G>A (p.Cys104Tyr) rs72553879
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883

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