ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_012452.2(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875
NM_012452.2(TNFRSF13B):c.431C>A (p.Ser144Ter) rs104894650
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.