ClinVar Miner

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

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Total variants: 32
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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.605G>A (p.Arg202His) rs104894649 0.00076
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.492C>G (p.Tyr164Ter) rs72553882 0.00006
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter) rs144718007 0.00004
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter) rs72553885 0.00004
NM_012452.3(TNFRSF13B):c.62-1G>A rs759649059 0.00002
NM_012452.3(TNFRSF13B):c.298dup (p.Cys100fs) rs72553878 0.00001
NM_012452.3(TNFRSF13B):c.497del (p.Thr166fs) rs2087501902 0.00001
NM_012452.3(TNFRSF13B):c.552C>A (p.Cys184Ter) rs1286642936 0.00001
NM_012452.3(TNFRSF13B):c.61+2T>A rs760885614 0.00001
NM_012452.3(TNFRSF13B):c.62-2A>G rs1286673507 0.00001
NC_000017.10:g.(?_16842861)_(16843845_?)del
NC_000017.10:g.(?_16852032)_(16852317_?)del
NC_000017.10:g.(?_16875309)_(16875389_?)del
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) rs121908379
NM_012452.3(TNFRSF13B):c.227_231del (p.Gly76fs) rs1265262160
NM_012452.3(TNFRSF13B):c.25C>T (p.Arg9Ter) rs1383649750
NM_012452.3(TNFRSF13B):c.306C>A (p.Tyr102Ter)
NM_012452.3(TNFRSF13B):c.350_356del (p.Glu117fs) rs1293048695
NM_012452.3(TNFRSF13B):c.355del (p.Arg119fs)
NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter) rs104894650
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter) rs104894650
NM_012452.3(TNFRSF13B):c.49del (p.Gln17fs) rs1555550717
NM_012452.3(TNFRSF13B):c.61+1G>A rs1016142312
NM_012452.3(TNFRSF13B):c.61+1G>T rs1016142312
NM_012452.3(TNFRSF13B):c.61+2T>C rs760885614
NM_012452.3(TNFRSF13B):c.91_92del (p.Met31fs)
NM_012452.3(TNFRSF13B):c.95_96dup (p.Ser33fs) rs1303637368

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