List of variants reported as likely pathogenic for Alpha-1-antitrypsin deficiency 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	gnomAD frequency
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)	rs28929470	0.00211
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met)	rs199422213	0.00006
NM_000295.5(SERPINA1):c.169T>C (p.Phe57Leu)	rs1457464431	0.00003
NM_000295.5(SERPINA1):c.646G>T (p.Gly216Cys)	rs756773408	0.00003
NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg)	rs1555367891

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