ClinVar Miner

Variants studied for tracheal disorder

Included ClinVar conditions (31):
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 association likely risk allele risk factor total
343 270 483 57 89 17 2 3 1212

Gene and significance breakdown #

Total genes and gene combinations: 63
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor total
CFTR 258 174 87 4 3 0 0 2 510
SCNN1A 10 8 139 14 40 0 0 0 200
SCNN1B 9 15 124 23 34 0 0 0 188
SCNN1G 3 2 98 7 6 0 0 0 115
CFTR, LOC111674472 27 21 8 0 0 0 0 0 53
CFTR, LOC111674475 17 4 2 0 0 0 0 0 22
CFTR, LOC111674477 6 6 1 0 0 0 0 0 13
GC 1 9 1 0 0 0 0 0 11
LTBR, SCNN1A 0 0 2 3 4 0 0 0 9
CFTR, LOC113664106 6 2 0 0 0 0 0 0 8
​intergenic 1 1 1 0 0 2 0 0 5
AGER 0 0 3 0 0 0 1 0 4
FAM13A 0 0 0 0 0 4 0 0 4
BRWD1 0 1 2 0 0 0 0 0 3
HHIP 0 0 0 0 0 3 0 0 3
CFTR, LOC111674463 0 1 0 1 0 0 0 0 2
CFTR, LOC113633877 1 0 1 0 0 0 0 0 2
HMOX1 0 1 0 1 0 0 0 0 2
HSPA1A 0 0 0 0 0 2 0 0 2
HSPA1A, LOC107063610 0 0 0 0 0 2 0 0 2
HSPA1B 0 0 0 0 0 2 0 0 2
LOC130007233, SCNN1A, TNFRSF1A 0 0 0 2 0 0 0 0 2
MMP1 0 0 0 1 1 0 0 0 2
MYO9A 0 0 2 0 0 0 0 0 2
SCLT1 0 0 2 0 0 0 0 0 2
SCNN1A, TNFRSF1A 0 0 0 1 1 0 0 0 2
SERPINA1 2 0 0 0 0 0 0 1 2
SYVN1 0 0 2 0 0 0 0 0 2
TERT 0 0 2 0 0 0 0 0 2
TLR4 0 0 1 0 0 0 1 0 2
TOLLIP 0 0 2 0 0 0 0 0 2
ADD1 0 1 0 0 0 0 0 0 1
AMER3 0 1 0 0 0 0 0 0 1
AP1G2 0 1 0 0 0 0 0 0 1
APC2, LOC130062955 0 1 0 0 0 0 0 0 1
BRWD1, LOC130066680 0 0 1 0 0 0 0 0 1
CELSR2 0 1 0 0 0 0 0 0 1
CHRNB4 1 0 0 0 0 0 0 0 1
DHX34 0 1 0 0 0 0 0 0 1
DSP 0 0 1 0 0 0 0 0 1
EFTUD2 1 0 0 0 0 0 0 0 1
GART 0 1 0 0 0 0 0 0 1
GLS 0 1 0 0 0 0 0 0 1
GTF3C1 0 1 0 0 0 0 0 0 1
HSPA1L 0 0 0 0 0 1 0 0 1
HYKK 0 1 0 0 0 0 0 0 1
IRF8 0 1 0 0 0 0 0 0 1
ITSN1 0 1 0 0 0 0 0 0 1
KLHL17 0 1 0 0 0 0 0 0 1
LOX, SRFBP1 0 0 1 0 0 0 0 0 1
LURAP1L 0 1 0 0 0 0 0 0 1
PCDH1 0 1 0 0 0 0 0 0 1
PIK3C2G 0 1 0 0 0 0 0 0 1
POLR2B 0 1 0 0 0 0 0 0 1
PTPN14 0 1 0 0 0 0 0 0 1
RAB3GAP2 0 1 0 0 0 0 0 0 1
SCGB1A1 0 0 0 0 0 1 0 0 1
SMAD6 0 1 0 0 0 0 0 0 1
TECPR1 0 1 0 0 0 0 0 0 1
TLR9 0 1 0 0 0 0 0 0 1
USP11 0 1 0 0 0 0 0 0 1
VDR 0 1 0 0 0 0 0 0 1
WDFY3 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor total
Fulgent Genetics, Fulgent Genetics 143 112 400 35 5 0 0 0 695
Baylor Genetics 277 138 13 0 0 0 0 0 428
Illumina Laboratory Services, Illumina 0 0 46 24 76 0 0 0 146
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 8 0 0 17 2 0 27
Shen Lab, Columbia University Medical Center 1 21 0 0 0 0 0 0 22
OMIM 12 0 0 0 1 0 0 2 15
Dr Mariam's Lab, University of the Punjab 2 11 1 0 0 0 0 0 14
Johns Hopkins Genomics, Johns Hopkins University 0 0 12 0 1 0 0 0 13
Genome-Nilou Lab 0 0 0 0 10 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 4 0 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 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 0 0 0 3
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 1 1 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 0 0 2
DASA 1 1 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 0 0 0 0 0 0 0 2
Mendelics 0 0 0 0 1 0 0 0 1
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 0 1 0 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 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 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 0 1
New York Genome Center 0 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 0 1

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