ClinVar Miner

List of variants reported as likely pathogenic by Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital

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Total variants: 5
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HGVS dbSNP
NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg) rs1555367891
NM_000295.5(SERPINA1):c.169T>C (p.Phe57Leu) rs1457464431
NM_000295.5(SERPINA1):c.646G>T (p.Gly216Cys) rs756773408
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470

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