ClinVar Miner

Variants studied for common variable immunodeficiency

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
52 9 163 55 82 1 1 352

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
LRBA 10 1 80 19 40 0 0 147
CR2 2 0 32 9 10 0 0 53
TNFRSF13B 11 2 24 4 7 1 1 44
NFKB2 5 1 11 11 13 0 0 39
TNFRSF13C 1 0 4 7 4 0 0 16
TNFSF12, TNFSF12-TNFSF13 0 0 4 3 4 0 0 11
ICOS 1 1 2 2 4 0 0 10
IKZF1 7 2 0 0 0 0 0 9
CD19 6 0 1 0 0 0 0 7
NFKB1 4 2 0 0 0 0 0 6
LOC108281188, LRBA 1 0 2 0 0 0 0 3
CD81 1 0 1 0 0 0 0 2
MS4A1 1 0 1 0 0 0 0 2
ACO2, CCDC134, CENPM, CSDC2, DESI1, LINC00634, LOC105373044, LOC108348030, LOC110740341, LOC111562373, LOC112695098, MEI1, MIR33A, MIR378I, NAGA, PHF5A, PMM1, POLR3H, RANGAP1, SEPTIN3, SHISA8, SNU13, SREBF2, TEF, TNFRSF13C, TOB2, WBP2NL, XRCC6, ZC3H7B 0 0 1 0 0 0 0 1
IL21 1 0 0 0 0 0 0 1
IRF2BP2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 11 4 149 53 79 0 0 296
OMIM 40 0 0 0 0 0 0 40
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 8 0 0 0 0 9
Samuels research lab,Centre de Recherche du CHU Ste-Justine 4 0 0 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 2 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 0 1 1 1 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 0 0 3
Fulgent Genetics 0 0 3 0 0 0 0 3
Immunogenetics Laboratory,Johns Hopkins All Children's Hospital 1 2 0 0 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 1 0 0 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 0 0 1 0 1
Genetech,Genetech Research Institute 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Department of Immunology,University Hospital Southampton NHSFT 1 0 0 0 0 0 0 1

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