ClinVar Miner

List of variants reported as benign for Alpha-1-antitrypsin deficiency by Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital

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Total variants: 8
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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_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00033
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) rs199422208 0.00002
NM_001127701.1(SERPINA1):c.77A>C (p.Asp26Ala) rs199422212

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