ClinVar Miner

List of variants in gene FARSB reported as likely pathogenic for severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Included ClinVar conditions (3):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_005687.5(FARSB):c.767C>T (p.Thr256Met)	rs753710639	0.00003
NM_005687.5(FARSB):c.1486delinsAA (p.His496fs)	rs1553549333

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