ClinVar Miner

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

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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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_001006658.3(CR2):c.593dup (p.Leu198fs) rs763336891
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332

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