ClinVar Miner

Variants studied for bronchial disease

Included ClinVar conditions (22):
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 total
45 8 75 18 75 1 219

Gene and significance breakdown #

Total genes and gene combinations: 16
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
SCNN1A 4 1 30 7 38 0 79
SCNN1B 7 0 20 11 33 0 69
CFTR 21 2 8 0 0 0 31
​intergenic 1 2 6 0 0 0 9
SCNN1G 2 1 5 0 0 0 8
LTBR, SCNN1A 0 0 1 0 4 0 5
BRWD1 0 1 3 0 0 0 4
CFTR, LOC111674475 4 0 0 0 0 0 4
CFTR, LOC111674472 2 0 0 0 0 0 2
MYO9A 0 0 2 0 0 0 2
BRCA2 1 0 0 0 0 0 1
CFTR, LOC113633877 1 0 0 0 0 0 1
CFTR, LOC113664106 1 0 0 0 0 0 1
FKBP5 0 0 0 0 0 1 1
STAT1 1 0 0 0 0 0 1
USP11 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 46 18 75 0 139
Fulgent Genetics,Fulgent Genetics 29 2 9 0 0 0 40
OMIM 12 0 0 0 0 0 12
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 2 6 0 0 0 9
Baylor Genetics 1 0 3 0 0 0 4
Research Unit of Respiratory Disease,The Second Xiangya Hospital of Central South University 0 1 3 0 0 0 4
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 0 1 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Department of Biology,College of Science, Baghdad University 0 0 0 0 0 1 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.