ClinVar Miner

Variants studied for common variable immunodeficiency

Included ClinVar conditions (17):
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
109 35 1029 331 148 2 1 1608

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
LRBA 31 12 462 149 59 0 0 705
CR2 3 2 191 53 17 0 0 262
NFKB2 6 3 88 50 16 0 0 160
TNFRSF13B 20 7 93 24 10 1 1 145
ICOS 2 2 57 14 19 0 0 89
TNFRSF13C 1 0 41 23 9 1 0 62
TNFSF12, TNFSF12-TNFSF13 0 0 38 11 5 0 0 54
CD19 6 1 38 5 4 0 0 53
NFKB1 19 5 2 1 3 0 0 28
IKZF1 8 3 2 0 1 0 0 14
IRF2BP2 1 0 4 1 3 0 0 9
CD81 1 0 2 0 1 0 0 4
LRBA, MAB21L2 3 0 1 0 0 0 0 4
MS4A1 1 0 2 0 1 0 0 4
LOC108281188, LRBA 1 0 2 0 0 0 0 3
IL21 1 0 1 0 0 0 0 2
NFKBID 0 0 2 0 0 0 0 2
RAG2 2 0 0 0 0 0 0 2
TTC7A 2 0 0 0 0 0 0 2
ACADVL, ACAP1, ALOX12, ALOX12B, ALOX15B, ALOXE3, ASGR1, ASGR2, ATP1B2, AURKB, BCL6B, BORCS6, C17orf49, CD68, CHD3, CHRNB1, CLDN7, CLEC10A, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MIR195, MIR497HG, MPDU1, NAA38, NEURL4, NLGN2, PER1, PHF23, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53, XAF1, YBX2, ZBTB4 0 0 1 0 0 0 0 1
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
CD40LG 0 0 1 0 0 0 0 1
CTLA4, ICOS 1 0 0 0 0 0 0 1
MANBA, NFKB1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 44 15 880 311 116 0 0 1366
Illumina Clinical Services Laboratory,Illumina 0 0 87 9 21 0 0 117
OMIM 48 0 0 0 0 0 0 48
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 1 6 12 27 1 0 48
Baylor Genetics 2 0 44 0 0 0 0 46
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 16 0 0 0 0 17
NIHR Bioresource Rare Diseases, University of Cambridge 10 1 1 0 0 0 0 12
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 0 7 3 0 0 0 11
Mendelics 1 3 3 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 2 1 0 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 1 1 1 1 1 0 0 5
Samuels research lab,Centre de Recherche du CHU Ste-Justine 4 0 0 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 1 2 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 2 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 0 3
Fulgent Genetics,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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 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
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 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
Immunology Clinic,UCLA 1 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 0 1
Nilou-Genome Lab 1 0 0 0 0 0 0 1

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