ClinVar Miner

List of variants reported as likely pathogenic for Alpha-1-antitrypsin deficiency

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Total variants: 26
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HGVS dbSNP
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211
NM_000295.5(SERPINA1):c.1018del (p.Ala340fs) rs1057516929
NM_000295.5(SERPINA1):c.1066-1G>T rs1555367897
NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg) rs1555367891
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869
NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg)
NM_000295.5(SERPINA1):c.169T>C (p.Phe57Leu) rs1457464431
NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter) rs762321137
NM_000295.5(SERPINA1):c.1A>G (p.Met1Val) rs1057516555
NM_000295.5(SERPINA1):c.21G>A (p.Trp7Ter) rs370038282
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter) rs864622051
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter) rs199422210
NM_000295.5(SERPINA1):c.646+1G>T rs751235320
NM_000295.5(SERPINA1):c.646+2T>C rs112661131
NM_000295.5(SERPINA1):c.646G>T (p.Gly216Cys) rs756773408
NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter) rs1445192595
NM_000295.5(SERPINA1):c.714del (p.Thr239fs) rs1057516448
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898
NM_000295.5(SERPINA1):c.958A>C (p.Thr320Pro) rs746155701
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714

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