ClinVar Miner

List of variants reported as pathogenic for Common variable immunodeficiency 2 by Invitae

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Total variants: 11
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HGVS dbSNP
NM_012452.2(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875
NM_012452.2(TNFRSF13B):c.431C>G (p.Ser144Ter) rs104894650
NM_012452.2(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882
NM_012452.2(TNFRSF13B):c.49del (p.Gln17fs) rs1555550717
NM_012452.2(TNFRSF13B):c.572dup (p.Asp191fs) rs769165409
NM_012452.2(TNFRSF13B):c.579C>A (p.Cys193Ter) rs72553885
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) rs121908379
NM_012452.2(TNFRSF13B):c.61+1G>T rs1016142312
NM_012452.2(TNFRSF13B):c.95_96dupGA rs1303637368
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter)
NM_012452.3(TNFRSF13B):c.222_226GCAAG[1] (p.Gly76fs) rs1265262160

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