ClinVar Miner

List of variants reported as pathogenic for B cell deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_020661.4(AICDA):c.259T>C (p.Cys87Arg) rs762590894 0.00001
NC_000009.11:g.(332479_334224)_(422136_426884)del
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.1559G>A (p.Arg520Gln) rs128621202
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del) rs1603019594
NM_000061.3(BTK):c.215dup (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.280del (p.Ile94fs)
NM_000061.3(BTK):c.310dupG
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.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.863G>A (p.Arg288Gln) rs1555978277
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.3(CD40LG):c.347-1G>A rs2076118841
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met) rs193922136
NM_001006658.3(CR2):c.593dup (p.Leu198fs) rs763336891
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys) rs879255271
NM_001250.6(CD40):c.170C>T (p.Thr57Met)
NM_001250.6(CD40):c.256+2T>C rs774195387
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_020661.4(AICDA):c.295C>T (p.Arg99Ter)
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln) rs113994136
NM_139276.3(STAT3):c.1234A>T (p.Thr412Ser) rs1567713850
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del) rs113994138
NM_139276.3(STAT3):c.1397A>G (p.Asn466Ser) rs1057521091
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139

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