List of variants in gene SFTPC reported as likely 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001317778.2(SFTPC):c.192C>G (p.His64Gln)	rs2131815446
NM_001317778.2(SFTPC):c.202G>T (p.Val68Phe)	rs2131816806
NM_001317778.2(SFTPC):c.314A>T (p.Asp105Val)	rs2131817329
NM_001317778.2(SFTPC):c.334G>C (p.Ala112Pro)	rs372529179
NM_001317778.2(SFTPC):c.337T>C (p.Tyr113His)	rs2538945227
NM_001317778.2(SFTPC):c.397A>C (p.Ser133Arg)	rs1554476282
NM_001317778.2(SFTPC):c.418A>T (p.Lys140Ter)
NM_001317778.2(SFTPC):c.435G>A (p.Gln145=)	rs2538945951
NM_001317778.2(SFTPC):c.444del (p.Ala149fs)	rs2131820994
NM_001317778.2(SFTPC):c.476_477del (p.Glu159fs)	rs2538948503
NM_001317778.2(SFTPC):c.481C>T (p.Arg161Ter)	rs1209953579
NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr)	rs1827914094

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