ClinVar Miner

List of variants studied for chronic obstructive pulmonary disease by Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University

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
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
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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)	rs147211854	0.00031
NM_033656.4(BRWD1):c.523C>T (p.His175Tyr)	rs1472467905	0.00002
NM_033656.4(BRWD1):c.1016T>C (p.Leu339Ser)	rs2146693248
NM_033656.4(BRWD1):c.166G>A (p.Gly56Ser)	rs2146817189

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