ClinVar Miner

List of variants in gene SFTPA2 reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001098668.4(SFTPA2):c.26C>A (p.Thr9Asn) rs1059046 0.51745
NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=) rs1965707 0.30680
NM_001098668.4(SFTPA2):c.667C>A (p.Gln223Lys) rs1965708 0.25261
NM_001098668.4(SFTPA2):c.271G>C (p.Ala91Pro) rs17886395 0.16203
NM_001098668.4(SFTPA2):c.148G>C (p.Val50Leu) rs192907309 0.04097
NM_001098668.4(SFTPA2):c.282A>G (p.Arg94=) rs17886221 0.02047
NM_001098668.4(SFTPA2):c.292+11C>T rs182465294 0.01018
NM_001098668.4(SFTPA2):c.648T>C (p.Pro216=) rs17096771

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