ClinVar Miner

List of variants reported as uncertain significance for tracheal disorder by Baylor Genetics

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)
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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)	rs1800110	0.00106
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser)	rs148985177	0.00069
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)	rs144476686	0.00043
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)	rs149279509	0.00019
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)	rs1800072	0.00019
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)	rs145900055	0.00019
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)	rs150691494	0.00019
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	rs121909021	0.00015
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)	rs55928397	0.00009
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)	rs775701644	0.00004
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg)	rs202142122	0.00001
NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)
NM_001039.4(SCNN1G):c.1284C>T (p.His428=)	rs749657510

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