ClinVar Miner

List of variants studied for agammaglobulinemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.81G>A (p.Thr27=) rs8072293 0.81820
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729 0.01586
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_000061.3(BTK):c.1138C>T (p.Gln380Ter) rs1569292021
NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter) rs193922124
NM_000061.3(BTK):c.1511A>T (p.Asp504Val) rs193922125
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.3(BTK):c.164C>A (p.Ser55Ter) rs1555980796
NM_000061.3(BTK):c.1673_1680del (p.Lys558fs) rs193922126
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter) rs1926380106
NM_000061.3(BTK):c.1716dup (p.Lys573fs) rs2147424879
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del) rs1603019594
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) rs128621210
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
NM_000061.3(BTK):c.215dup (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.233del (p.Gln78fs) rs2147447513
NM_000061.3(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.3(BTK):c.280del (p.Ile94fs)
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.3(BTK):c.37C>T (p.Arg13Ter) rs128620187
NM_000061.3(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.3(BTK):c.472_475del (p.Thr158fs) rs193922128
NM_000061.3(BTK):c.588+1G>T rs1569293252
NM_000061.3(BTK):c.588+2T>A rs1555978777
NM_000061.3(BTK):c.655del (p.Val219fs) rs1569292810
NM_000061.3(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.777-2A>G rs193922129
NM_000061.3(BTK):c.777-3C>G rs193922130
NM_000061.3(BTK):c.799_806del (p.Asn267fs) rs1555978412
NM_000061.3(BTK):c.806del (p.Val269fs) rs1926614700
NM_000061.3(BTK):c.840-1G>A rs193922131
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.3(BTK):c.895-2A>G rs193922132
NM_000061.3(BTK):c.998A>G (p.His333Arg) rs193922133
NM_001006658.3(CR2):c.593dup (p.Leu198fs) rs763336891
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys) rs879255271
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332

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.