ClinVar Miner

List of variants reported as uncertain significance for tracheal disorder by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (31):

Abnormal facial shape; Pleural effusion; Interphalangeal joint contracture of finger; Emphysema; Increased number of skin folds
Alpha-1-antitrypsin deficiency; COPD, severe early onset
Atrial septal defect; Autistic behavior; Tracheomalacia; Gastroesophageal reflux
Bronchiectasis
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 1, modifier of
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB1, autosomal recessive
Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB2, autosomal recessive
Bronchiectasis with or without elevated sweat chloride 2
Bronchiectasis with or without elevated sweat chloride 3
Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2; Pseudohypoaldosteronism, type IB3, autosomal recessive
COPD, severe early onset
Chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease; Alpha-1-antitrypsin deficiency
Chronic obstructive pulmonary disease; Heme oxygenase 1 deficiency
Chronic obstructive pulmonary disease; Immunodeficiency; Chronic diarrhea; Decreased circulating antibody concentration
Dynein arm defect of respiratory motile cilia; Absent inner and outer dynein arms; Abnormal ciliary motility; Bronchiectasis
Epicanthus; Micrognathia; Posteriorly rotated ears; Hearing impairment; Feeding difficulties; Optic nerve hypoplasia; Tall stature; Nystagmus; Tracheomalacia; Stereotypic movement disorder; Abnormal facial shape; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Short philtrum; Abnormality of eye movement; Impaired social interactions; Polydactyly of a biphalangeal thumb; Decreased fetal movement; Broad toe; Generalized non-motor (absence) seizure; Ankle flexion contracture; Reduced visual acuity; Hypoplastic helices; 1-2 finger cutaneous syndactyly; Intellectual disability, severe; Severe global developmental delay; Gastrostomy tube feeding in infancy; Thick vermilion border
Failure to thrive; Cognitive impairment; Hypothyroidism; Chronic diarrhea; Combined immunodeficiency; Bronchiectasis
Heme oxygenase 1 deficiency; COPD, severe early onset
Idiopathic bronchiectasis
Male infertility; Recurrent otitis media; Recurrent sinusitis; Situs inversus; Bronchiectasis
Male infertility; Recurrent sinusitis; Situs inversus; Bronchiectasis
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN
Polycystic kidney disease; Intellectual disability; Emphysema; Reduced renal corticomedullary differentiation; Neurodevelopmental delay; Postaxial polydactyly
Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3
Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2
Recessive dystrophic epidermolysis bullosa; COPD, severe early onset
Seizure; Hypospadias; Tracheomalacia; Abnormal facial shape; Delayed speech and language development; Intellectual disability, moderate; Periventricular leukomalacia; Hypotonia; Encephalomalacia
Tracheoesophageal fistula

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1069G>A (p.Ala357Thr)
NM_000492.4(CFTR):c.1210-6T>A	rs763339686
NM_000492.4(CFTR):c.3536C>T (p.Thr1179Ile)
NM_000492.4(CFTR):c.869+1G>A	rs1330431481

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