ClinVar Miner

Variants studied for tracheal 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 association likely risk allele risk factor total
317 188 187 49 88 17 2 3 831

Gene and significance breakdown #

Total genes and gene combinations: 64
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor total
CFTR 236 122 76 3 3 0 0 2 437
SCNN1A 6 5 36 12 40 0 0 0 93
SCNN1B 9 2 32 19 34 0 0 0 89
CFTR, LOC111674472 27 14 7 0 0 0 0 0 48
SCNN1G 2 1 11 6 6 0 0 0 25
CFTR, LOC111674475 17 2 2 0 0 0 0 0 21
CFTR, LOC111674477 6 5 0 0 0 0 0 0 11
GC 1 9 1 0 0 0 0 0 11
LTBR, SCNN1A 0 0 1 3 4 0 0 0 8
CFTR, LOC113664106 6 1 0 0 0 0 0 0 7
​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, LOC113633877 1 0 1 0 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
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
CFTR, LOC111674463 0 0 0 1 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
HMOX1 0 0 0 1 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
MMP1 0 0 0 1 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
STAT1 1 0 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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor total
Baylor Genetics 277 138 13 0 0 0 0 0 428
Fulgent Genetics, Fulgent Genetics 75 11 103 26 5 0 0 0 220
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 0 0 0 2 14
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
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University 0 1 3 0 0 0 0 0 4
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
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 1 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 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 Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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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