ClinVar Miner

List of variants studied for pulmonary alveolar proteinosis by Department of Medical Genomics, Royal Prince Alfred Hospital

Included ClinVar conditions (11):

Hereditary pulmonary alveolar proteinosis
Infantile liver failure syndrome 2
Interstitial lung disease due to ABCA3 deficiency
Myopathy; Respiratory distress; Proximal muscle weakness; Pulmonary alveolar proteinosis; Generalized hypotonia; Neonatal hypotonia; Restrictive ventilatory defect; Neonatal respiratory distress; Respiratory insufficiency due to muscle weakness; Skeletal myopathy; Abnormal pulmonary interstitial morphology; Congenital peripheral neuropathy; Proximal muscle weakness in upper limbs; Infantile axial hypotonia
Pulmonary alveolar proteinosis
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U
Surfactant metabolism dysfunction, pulmonary, 1
Surfactant metabolism dysfunction, pulmonary, 2
Surfactant metabolism dysfunction, pulmonary, 4
Surfactant metabolism dysfunction, pulmonary, 5

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

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001317778.2(SFTPC):c.289G>C (p.Gly97Arg)	rs927644577

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