ClinVar Miner

Variants studied for bronchial disorder

Included ClinVar conditions (27):
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 likely risk allele risk factor total
347 243 477 55 88 1 3 1155

Gene and significance breakdown #

Total genes and gene combinations: 21
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor total
CFTR 265 178 87 4 3 0 2 515
SCNN1A 10 9 140 14 40 0 0 202
SCNN1B 9 15 126 23 34 0 0 190
SCNN1G 3 2 98 7 6 0 0 115
CFTR, LOC111674472 28 22 8 0 0 0 0 54
CFTR, LOC111674475 17 4 2 0 0 0 0 22
CFTR, LOC111674477 6 6 2 0 0 0 0 13
​intergenic 1 2 6 0 0 0 0 9
LTBR, SCNN1A 0 0 2 3 4 0 0 9
CFTR, LOC113664106 6 2 0 0 0 0 0 8
BRWD1 0 1 2 0 0 0 0 3
CFTR, LOC111674463 0 1 0 1 0 0 0 2
CFTR, LOC113633877 1 0 1 0 0 0 0 2
LOC130007233, SCNN1A, TNFRSF1A 0 0 0 2 0 0 0 2
MYO9A 0 0 2 0 0 0 0 2
SCNN1A, TNFRSF1A 0 0 0 1 1 0 0 2
BRWD1, LOC130066680 0 0 1 0 0 0 0 1
CARD11 1 0 0 0 0 0 0 1
FKBP5 0 0 0 0 0 0 1 1
TBXA2R 0 0 0 0 0 1 0 1
USP11 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor total
Fulgent Genetics, Fulgent Genetics 142 111 400 33 5 0 0 691
Baylor Genetics 277 138 13 0 0 0 0 428
Illumina Laboratory Services, Illumina 0 0 46 24 76 0 0 146
Department of Pathology and Laboratory Medicine, Sinai Health System 8 3 9 0 0 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 10 9 0 0 0 0 0 19
OMIM 12 0 0 0 0 0 2 14
Johns Hopkins Genomics, Johns Hopkins University 0 0 12 0 1 0 0 13
Genome-Nilou Lab 0 0 0 0 10 0 0 10
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 2 6 0 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 4 0 0 0 0 9
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University 0 1 3 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 0 2
DASA 1 1 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 0 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
Department of Biology, College of Science, Baghdad University 0 0 0 0 0 0 1 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
Allergology and Ecology Laboratory, University of Burdwan 0 0 0 0 0 1 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

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.