ClinVar Miner

Variants studied for complement deficiency

Included ClinVar conditions (44):
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
129 97 784 328 302 30 8 1500

Gene and significance breakdown #

Total genes and gene combinations: 62
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
C3 8 12 146 82 84 4 0 268
CFH 17 12 99 53 56 9 3 218
CFI 13 12 62 31 30 6 1 137
THBD 1 1 64 10 38 3 0 112
C5 4 4 55 41 0 0 0 104
MBL2 3 0 74 13 0 0 1 88
CD46 10 7 53 8 10 6 0 87
MASP2 1 2 39 6 15 0 0 59
C2 1 2 45 3 2 0 0 51
CFB 1 0 29 12 13 2 0 51
MASP2, TARDBP 0 0 23 5 3 0 0 31
C2, CFB 0 0 7 26 15 0 0 27
C7 14 5 7 2 0 0 0 26
C6 7 9 5 5 1 0 0 25
C8B 9 1 10 1 2 0 0 22
C9 7 7 6 2 0 0 0 19
CFHR5 1 0 5 8 2 0 0 16
DGKE 4 9 2 0 0 0 0 14
C1S 2 1 8 2 0 0 0 13
C1QC 4 0 6 0 0 0 1 10
C1QA 2 3 3 1 1 0 0 9
FCN3 1 1 6 2 0 0 0 8
C1QB 3 0 3 1 0 0 0 7
C8A 2 0 1 2 2 0 0 7
CD46, LOC129932405 0 1 4 1 1 0 0 7
CFHR3 0 0 1 3 3 0 0 7
MYH9 0 0 0 0 7 0 0 7
SERPING1 2 0 3 0 0 0 0 5
CFHR2 0 0 0 2 2 0 0 4
COL4A3, MFF-DT 0 0 0 0 4 0 0 4
ADAMTS13 0 1 2 0 0 0 0 3
C4A 1 0 2 0 0 0 0 3
C4B 1 1 1 0 0 0 0 3
C5, C5-OT1 0 0 2 1 0 0 0 3
CFD 2 0 1 0 0 0 0 3
COL4A4 0 0 0 0 3 0 0 3
FGA 0 2 1 0 0 0 0 3
FGG 1 1 1 0 0 0 0 3
PLA2R1 0 0 0 0 3 0 0 3
BAAT 0 0 0 0 0 0 2 2
CFHR1 0 0 2 0 0 0 0 2
CFHR4 0 0 0 2 0 0 0 2
COL4A5 1 0 0 0 1 0 0 2
FGB 1 0 1 0 0 0 0 2
NPHS1 0 0 0 0 2 0 0 2
SMARCAL1 0 1 1 0 0 0 0 2
C1GALT1C1 1 0 0 0 0 0 0 1
C3AR1 0 1 0 0 0 0 0 1
CEP290 0 0 1 0 0 0 0 1
CFH, CFHR1, CFHR3 1 0 0 0 0 0 0 1
CFH, CFHR1, CFHR3, LOC126805964, LOC129388721, LOC129932153 1 0 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510 0 1 0 0 0 0 0 1
KMT2D 1 0 0 0 0 0 0 1
LAMB2 0 0 0 1 0 0 0 1
MMACHC 1 0 0 0 0 0 0 1
NLRP3 0 0 0 0 1 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 0 0 1
NPHP4 0 0 0 1 0 0 0 1
PLG 0 0 1 0 0 0 0 1
TMEM67 0 0 1 0 0 0 0 1
TRPC6 0 0 0 0 1 0 0 1
WT1 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Laboratory Services, Illumina 1 2 397 121 230 0 0 682
Fulgent Genetics, Fulgent Genetics 18 21 206 174 16 0 0 435
Genome-Nilou Lab 0 0 67 28 69 0 0 164
Genome Diagnostics Laboratory, The Hospital for Sick Children 3 5 43 44 58 0 0 153
OMIM 61 0 0 0 0 30 0 91
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 20 9 23 1 0 0 0 53
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 2 47 1 0 0 0 52
Sydney Genome Diagnostics, Children's Hospital Westmead 13 6 23 0 0 1 0 43
Baylor Genetics 7 2 23 0 0 0 0 32
Mendelics 4 1 5 2 4 0 0 16
Revvity Omics, Revvity 3 4 8 0 0 0 0 15
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 9 0 0 0 0 10
Johns Hopkins Genomics, Johns Hopkins University 2 2 5 0 0 0 0 9
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 2 3 3 0 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 4 0 0 0 0 0 7
GeneReviews 1 0 0 0 0 0 6 7
Richard Lifton Laboratory, Yale University School of Medicine 0 7 0 0 0 0 0 7
3billion 1 2 4 0 0 0 0 7
Institute of Human Genetics, Cologne University 1 2 2 0 0 0 0 5
New York Genome Center 0 1 4 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 1 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 1 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 1 0 0 4
Reproductive Health Research and Development, BGI Genomics 3 1 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 1 0 0 0 0 4
Medizinische Genetik Mainz, Limbach Genetics GmbH 3 0 1 0 0 0 0 4
Centogene AG - the Rare Disease Company 0 2 1 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 2 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 3 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 1 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 2
ITMI 0 2 0 0 0 0 0 2
Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences 1 1 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 1 0 0 0 0 2
DASA 1 1 0 0 0 0 0 2
John Atkinson Laboratory, Washington University School of Medicine in St. Louis 0 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 0 0 0 0 1
Carola Vinuesa Lab, John Curtin School of Medical Research 1 0 0 0 0 0 0 1
Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, University hospital of Copenhagen, Rigshospitalet 1 0 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 1 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 0 0 1
Pio d'adamo Lab, University Of Trieste 0 1 0 0 0 0 0 1

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.