ClinVar Miner

List of variants in gene SFTPA1 reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005411.5(SFTPA1):c.148C>G (p.Leu50Val) rs1136450 0.52928
NM_005411.5(SFTPA1):c.186A>G (p.Pro62=) rs1136451 0.17245
NM_005411.5(SFTPA1):c.117C>T (p.His39=) rs72659390 0.12124
NM_005411.5(SFTPA1):c.655C>T (p.Arg219Trp) rs4253527 0.10197
NM_005411.5(SFTPA1):c.399A>G (p.Thr133=) rs1059057 0.06094
NM_005411.5(SFTPA1):c.552T>C (p.Tyr184=) rs4253526 0.01999
NM_005411.5(SFTPA1):c.606C>T (p.Asp202=) rs1059058 0.01532
NM_005411.5(SFTPA1):c.271C>G (p.Pro91Ala) rs1136452 0.01022
NM_005411.5(SFTPA1):c.342T>C (p.Phe114=) rs1059056 0.00332

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