ClinVar Miner

List of variants reported as likely pathogenic for Immunodeficiency, common variable, 2

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr) rs72553879 0.00016
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00006
NC_000017.10:g.(?_16842841)_(16855917_?)del
NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter) rs1658388636
NM_012452.3(TNFRSF13B):c.102C>A (p.Cys34Ter) rs756955033

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