ClinVar Miner

List of variants in gene combination CFTR, LOC111674472 reported as pathogenic for bronchial disorder

Included ClinVar conditions (26):

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; 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
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
Failure to thrive; Cognitive impairment; Hypothyroidism; Chronic diarrhea; Combined immunodeficiency; Bronchiectasis
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; Neutropenia; 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; Monocytopenia; Abnormal emotional state; Encopresis; Asthma
Idiopathic bronchiectasis
Male infertility; Recurrent otitis media; Recurrent sinusitis; Situs inversus; Bronchiectasis
Male infertility; Recurrent sinusitis; Situs inversus; Bronchiectasis
Migraine; Obesity; Short attention span; Muscle weakness; Headache; Nephrolithiasis; Striae distensae; Ectopic ossification; Asthma
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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00039
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)	rs747754623	0.00011
NM_000492.4(CFTR):c.3140-26A>G	rs76151804	0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)	rs78194216	0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00006
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)	rs121908761	0.00003
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	rs144055758	0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)	rs78802634	0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)	rs36210737	0.00002
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)	rs397508498	0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)	rs121909019	0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)	rs139304906	0.00001
NM_000492.4(CFTR):c.2989-1G>A	rs397508470
NM_000492.4(CFTR):c.2989-2A>G	rs193922515
NM_000492.4(CFTR):c.2989-2A>T	rs193922515
NM_000492.4(CFTR):c.2993del (p.Leu998fs)	rs1057516415
NM_000492.4(CFTR):c.3022del (p.Val1008fs)	rs397508482
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)	rs121908767
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)	rs397508496
NM_000492.4(CFTR):c.3140-16T>A
NM_000492.4(CFTR):c.3140-1G>A	rs397508506
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)	rs397508510
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)	rs142394380
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter)	rs397508532
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)	rs397508535
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)	rs146521846

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