ClinVar Miner

List of variants reported as benign for Alpha-1-antitrypsin deficiency by Illumina Laboratory Services, Illumina

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000295.5(SERPINA1):c.*968T>C rs1243166 0.70142
NM_000295.5(SERPINA1):c.*1221A>G rs11832 0.62751
NM_000295.5(SERPINA1):c.*854T>C rs1051052 0.47426
NM_000295.5(SERPINA1):c.*481G>A rs1243165 0.31650
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_000295.5(SERPINA1):c.*316G>T rs1243164 0.30828
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_000295.5(SERPINA1):c.*224G>A rs2073333 0.21724
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_000295.5(SERPINA1):c.*1067G>A rs11628917 0.09897
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=) rs20546 0.03085

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