ClinVar Miner

List of variants reported as pathogenic for hereditary pulmonary alveolar proteinosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)	rs149989682	0.00293
NM_000542.5(SFTPB):c.361_362insAA (p.Pro121fs)	rs779795223	0.00025

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