ClinVar Miner

Variants studied for complement deficiency

Included ClinVar conditions (36):
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 41 464 123 196 33 1 880

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
C3 7 4 97 29 67 4 0 151
CFH 22 3 39 14 46 9 0 128
MBL2 3 0 74 12 0 0 1 88
CFI 7 5 32 10 26 6 0 82
CD46 8 3 50 6 11 6 0 81
MASP2 1 1 36 6 15 0 0 57
C2 1 2 45 2 2 0 0 50
CFB 1 0 24 9 11 2 0 44
C2, CFB 0 0 6 26 15 0 0 28
MASP2, TARDBP 0 0 20 5 3 0 0 28
DGKE 11 13 2 0 0 5 0 25
C7 13 0 1 0 0 0 0 14
C9 9 2 3 1 0 0 0 13
C5 5 1 5 1 0 0 0 12
C8B 8 0 3 0 0 0 0 11
C6 7 2 1 0 0 0 0 10
C1S 2 0 5 0 0 0 0 7
C1QC 4 0 2 0 0 0 0 6
THBD 1 0 4 0 0 1 0 6
C1QA 2 1 1 1 0 0 0 5
C1QB 3 0 1 1 0 0 0 5
C8A 4 0 1 0 0 0 0 5
ADAMTS13 0 1 2 0 0 0 0 3
C4A 1 0 2 0 0 0 0 3
BAAT 2 0 0 0 0 0 0 2
C4B 1 0 1 0 0 0 0 2
CFHR5 1 0 1 0 0 0 0 2
FCN3 1 1 2 0 0 0 0 2
SMARCAL1 0 1 1 0 0 0 0 2
C3AR1 0 1 0 0 0 0 0 1
CFH, CFHR1, CFHR3 1 0 0 0 0 0 0 1
CFHR1 0 0 1 0 0 0 0 1
COL4A5 1 0 0 0 0 0 0 1
KMT2D 1 0 0 0 0 0 0 1
MMACHC 1 0 0 0 0 0 0 1
PLG 0 0 1 0 0 0 0 1
SERPING1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 1 2 363 117 192 0 0 605
OMIM 68 0 0 0 0 32 0 99
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 24 12 22 1 0 0 0 59
Sydney Genome Diagnostics,Children's Hospital Westmead 13 6 23 0 0 1 0 43
Baylor Genetics 11 0 25 0 0 0 0 36
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 24 0 0 0 0 25
Mendelics 0 1 4 2 4 0 0 11
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 4 0 0 0 0 0 7
Richard Lifton Laboratory, Yale University School of Medicine 0 7 0 0 0 0 0 7
GeneReviews 6 0 0 0 0 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 1 0 0 4
DNA and Cytogenetics Diagnostics Unit,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
Institute of Human Genetics,Cologne University 1 0 2 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 1 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 0 3
Centogene AG - the Rare Disease Company 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
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 0 1 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 0 1
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
Center for Genomic Medicine,University of Copenhagen 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Center for Precision Medicine,Vanderbilt University Medical Center 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
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1

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