ClinVar Miner

List of variants reported as uncertain significance for bronchial disorder by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (27):

Asthma
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; Congenital bilateral aplasia of vas deferens from CFTR mutation
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
Cleft upper lip; Mixed hearing impairment; Abnormality of the inner ear; Double aortic arch; Hypotonia; Asthma
Cryptorchidism; Duane retraction syndrome; Atrial septal defect; Global developmental delay; Abnormal cardiovascular system morphology; Scoliosis; Growth delay; Proximal muscle weakness in lower limbs; Chronic constipation; Ventricular septal defect; Asthma
Dynein arm defect of respiratory motile cilia; Absent inner and outer dynein arms; Abnormal ciliary motility; Bronchiectasis
Epicanthus; Corpus callosum, agenesis of; Esotropia; Global developmental delay; Hemihypertrophy; Inguinal hernia; Atypical behavior; Scoliosis; Overgrowth; Unsteady gait; Abnormal facial shape; Poor head control; Hydrocephalus; Facial asymmetry; Gait imbalance; Poor motor coordination; Chiari malformation; Cortical dysplasia; High, narrow palate; Increased mean corpuscular volume; Metopic synostosis; Heart murmur; Ventricular septal defect; Attention deficit hyperactivity disorder; Asthma
Global developmental delay; Expressive language delay; Short stature; Microcephaly; Hypotonia; Asthma
Global developmental delay; Posteriorly rotated ears; Anemia; Tapered finger; Hemangioma; Clinodactyly of the 5th finger; Delayed speech and language development; Abnormality of the dentition; Macrocephaly; Bruising susceptibility; Gastroesophageal reflux; Allergy; Heart murmur; Hypotonia; Asthma
Global developmental delay; Seizure; Exotropia; Penile hypospadias; Split foot; Proximal tibial hypoplasia; Chronic sinusitis; Asthma
Hypertelorism; Hyperhydroxyprolinemia; Enuresis; Sleep abnormality; Tall stature; Eczematoid dermatitis; Delayed speech and language development; Frontal bossing; Triangular face; Thin upper lip vermilion; Recurrent otitis media; Microdontia; Decreased total neutrophil count; Hypertriglyceridemia; Downturned corners of mouth; Increased blood urea nitrogen; Hypertyrosinemia; Somatic sensory dysfunction; Delayed fine motor development; Abnormal circulating serine family amino acid concentration; Bronchiolitis; Decreased total monocyte count; Abnormal emotional state; Encopresis; Asthma
Idiopathic bronchiectasis
Male infertility; Recurrent otitis media; Recurrent sinusitis; Situs inversus; Bronchiectasis
Male infertility; Recurrent sinusitis; Situs inversus; Bronchiectasis
Osteopenia; Splenomegaly; Asthma
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
Pulmonic stenosis; Atrial septal defect; Autistic behavior; Aggressive behavior; Constipation; Aspiration; Coarse facial features; Delayed speech and language development; Emotional lability; Dry skin; Thickened skin; Severe global developmental delay; Asthma
Velopharyngeal insufficiency; Pulmonary hypoplasia; Epistaxis; Hypernasal speech; Speech apraxia; Recurrent otitis media; Autism with high cognitive abilities; Abnormality of the respiratory system; Bilateral lung agenesis; Asthma

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser)	rs148985177	0.00066
NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln)	rs113234492	0.00023
NM_001038.6(SCNN1A):c.1426C>T (p.Arg476Trp)	rs113622727	0.00020
NM_000336.3(SCNN1B):c.1328T>C (p.Met443Thr)	rs142572398	0.00012
NM_001038.6(SCNN1A):c.1523G>A (p.Arg508Gln)	rs763359949	0.00005
NM_001039.4(SCNN1G):c.564C>A (p.His188Gln)	rs899371749	0.00003
NM_001038.6(SCNN1A):c.457A>T (p.Ile153Phe)	rs775335440	0.00002
NM_000336.3(SCNN1B):c.1329G>A (p.Met443Ile)	rs1358331871	0.00001
NM_001038.6(SCNN1A):c.133G>C (p.Glu45Gln)	rs200068111	0.00001
NM_000336.3(SCNN1B):c.372G>T (p.Glu124Asp)	rs758735806
NM_001039.4(SCNN1G):c.1654G>A (p.Val552Ile)	rs2141946564
NM_001039.4(SCNN1G):c.201C>G (p.Ile67Met)	rs2543567150

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