ClinVar Miner

List of variants in gene SCNN1B reported as likely benign for tracheal disorder

Included ClinVar conditions (27):

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 2
Bronchiectasis with or without elevated sweat chloride 3
COPD, severe early onset
Chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease; Alpha-1-antitrypsin 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
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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=)	rs139950628	0.00551
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=)	rs61759923	0.00210
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser)	rs61759926	0.00180
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=)	rs80027401	0.00141
NM_000336.3(SCNN1B):c.1152+10T>C	rs72654341	0.00108
NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu)	rs61729789	0.00101
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=)	rs762486495	0.00024
NM_000336.2(SCNN1B):c.-150C>G	rs530631658	0.00022
NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=)	rs149172890	0.00019
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=)	rs2303155	0.00016
NM_000336.3(SCNN1B):c.*20G>A	rs755277136	0.00010
NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys)	rs373718332	0.00009
NM_000336.3(SCNN1B):c.586-15T>C	rs371098444	0.00009
NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His)	rs200966246	0.00007
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe)	rs199810483	0.00006
NM_000336.3(SCNN1B):c.177C>T (p.Phe59=)	rs778937866	0.00004
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=)	rs757137077	0.00004
NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln)	rs201279350	0.00003
NM_000336.3(SCNN1B):c.1270+11G>T	rs369905217

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