ClinVar Miner

Variants studied for bronchial disorder

Included ClinVar conditions (26):
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
273 130 177 47 88 1 3 701

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor total
CFTR 201 100 76 3 3 0 2 381
SCNN1A 6 5 36 12 40 0 0 93
SCNN1B 9 2 32 19 34 0 0 89
CFTR, LOC111674472 23 13 7 0 0 0 0 43
SCNN1G 2 1 11 6 6 0 0 25
CFTR, LOC111674475 16 0 2 0 0 0 0 18
CFTR, LOC111674477 6 4 0 0 0 0 0 10
​intergenic 1 2 6 0 0 0 0 9
LTBR, SCNN1A 0 0 1 3 4 0 0 8
CFTR, LOC113664106 5 1 0 0 0 0 0 6
BRWD1 0 1 2 0 0 0 0 3
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
BRCA2 1 0 0 0 0 0 0 1
BRWD1, LOC130066680 0 0 1 0 0 0 0 1
CARD11 1 0 0 0 0 0 0 1
CFTR, LOC111674463 0 0 0 1 0 0 0 1
FKBP5 0 0 0 0 0 0 1 1
STAT1 1 0 0 0 0 0 0 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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor total
Baylor Genetics 236 112 12 0 0 0 0 360
Fulgent Genetics, Fulgent Genetics 74 11 103 24 5 0 0 217
Illumina Laboratory Services, Illumina 0 0 46 24 76 0 0 146
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
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University 0 1 3 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 2 0 1 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
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
New York Genome Center 0 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research 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

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