List of variants in gene CSF2RB reported as uncertain significance 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000395.3(CSF2RB):c.149C>T (p.Thr50Ile)	rs149609232	0.00110
NM_000395.3(CSF2RB):c.1943C>T (p.Pro648Leu)	rs200724880	0.00081
NM_000395.3(CSF2RB):c.2491G>A (p.Gly831Ser)	rs558205050	0.00017
NM_000395.3(CSF2RB):c.1381C>T (p.Arg461Cys)	rs371045078	0.00006
NM_000395.3(CSF2RB):c.2533G>A (p.Gly845Ser)	rs185150701	0.00005
NM_000395.3(CSF2RB):c.1267G>A (p.Gly423Arg)	rs370411972	0.00001
NM_000395.3(CSF2RB):c.1597G>A (p.Glu533Lys)	rs1601594289	0.00001
NM_000395.3(CSF2RB):c.1874C>T (p.Ser625Phe)	rs560156832	0.00001
NM_000395.3(CSF2RB):c.587C>A (p.Thr196Asn)	rs748941609	0.00001
NM_000395.3(CSF2RB):c.1943_1944inv (p.Pro648Leu)
NM_000395.3(CSF2RB):c.2119G>A (p.Val707Met)	rs1601595049
NM_000395.3(CSF2RB):c.2245G>C (p.Ala749Pro)	rs2518010646
NM_000395.3(CSF2RB):c.632G>A (p.Arg211Gln)	rs751578225

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