List of variants in gene SFTPB reported as pathogenic for Hereditary pulmonary alveolar proteinosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000542.5(SFTPB):c.754C>T (p.Arg252Cys)	rs772619023	0.00002
NM_000542.5(SFTPB):c.361delinsGAA (p.Pro121fs)	rs35328240
NM_000542.5(SFTPB):c.581del (p.Gln194fs)	rs2466685763
NM_000542.5(SFTPB):c.883C>T (p.Arg295Ter)	rs1677410327

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