ClinVar Miner

List of variants in gene SERPINA1 reported as likely pathogenic for Alpha-1-antitrypsin deficiency

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Total variants: 49
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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.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213 0.00006
NM_000295.5(SERPINA1):c.646+2T>C rs112661131 0.00005
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
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.654G>A (p.Trp218Ter) rs1445192595 0.00003
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu) rs746197812 0.00002
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211 0.00001
NM_000295.5(SERPINA1):c.646+1G>T rs751235320 0.00001
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898 0.00001
NM_000295.5(SERPINA1):c.-5+1G>A
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.1096G>C (p.Glu366Gln) rs28929474
NM_000295.5(SERPINA1):c.1097A>G (p.Glu366Gly)
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs) rs864622043
NM_000295.5(SERPINA1):c.1133_1134insTA (p.Glu378fs)
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg) rs199422209
NM_000295.5(SERPINA1):c.1179del (p.Phe394fs)
NM_000295.5(SERPINA1):c.155C>T (p.Pro52Leu)
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.216del (p.Asn73fs)
NM_000295.5(SERPINA1):c.21G>A (p.Trp7Ter) rs370038282
NM_000295.5(SERPINA1):c.250_257dup (p.Met87fs)
NM_000295.5(SERPINA1):c.290dup (p.His97fs)
NM_000295.5(SERPINA1):c.351_352del (p.His117fs)
NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter)
NM_000295.5(SERPINA1):c.480del (p.Lys160fs)
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.557del (p.Glu186fs)
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs) rs921982028
NM_000295.5(SERPINA1):c.647-2A>C
NM_000295.5(SERPINA1):c.647del rs1555368758
NM_000295.5(SERPINA1):c.673A>T (p.Lys225Ter)
NM_000295.5(SERPINA1):c.714del (p.Thr239fs) rs1057516448
NM_000295.5(SERPINA1):c.754_764dup (p.His255fs)
NM_000295.5(SERPINA1):c.82del (p.Gln28fs)
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) rs1555368557
NM_000295.5(SERPINA1):c.958A>C (p.Thr320Pro) rs746155701

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