ClinVar Miner

List of variants in gene SCNN1B reported as pathogenic for bronchiectasis

Included ClinVar conditions (14):

Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3
Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2
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; Autosomal recessive pseudohypoaldosteronism type 1
Bronchiectasis with or without elevated sweat chloride 2
Bronchiectasis with or without elevated sweat chloride 3
Dynein arm defect of respiratory motile cilia; Absent inner and outer dynein arms; Abnormal ciliary motility; Bronchiectasis
Failure to thrive; Cognitive impairment; Hypothyroidism; Chronic diarrhea; Combined immunodeficiency; Bronchiectasis
Idiopathic bronchiectasis
Male infertility; Recurrent otitis media; Recurrent sinusitis; Situs inversus; Bronchiectasis
Male infertility; Recurrent sinusitis; Situs inversus; Bronchiectasis

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)	rs35731153	0.00463
NM_000336.3(SCNN1B):c.1105C>A (p.Pro369Thr)	rs137852711	0.00014
NM_000336.3(SCNN1B):c.880G>A (p.Gly294Ser)	rs72654338	0.00003
NM_000336.3(SCNN1B):c.1615G>A (p.Glu539Lys)	rs137852710	0.00001
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter)	rs137852704	0.00001
NM_000336.3(SCNN1B):c.648dup (p.Glu217fs)	rs747116196	0.00001
NM_000336.3(SCNN1B):c.863A>G (p.Asn288Ser)	rs137852712	0.00001
NM_000336.3(SCNN1B):c.1543-2A>G	rs1596894031
NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu)	rs137852709

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