ClinVar Miner

List of variants in gene SERPINA1 reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800 0.03703
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=) rs20546 0.03085
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=) rs34112109 0.01536
NM_000295.5(SERPINA1):c.1068C>T (p.Ala356=) rs9630 0.00897

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