ClinVar Miner

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

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
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_000295.5(SERPINA1):c.899T>G (p.Leu300Arg) rs550592374 0.00009
NM_000295.5(SERPINA1):c.646+2T>C rs112661131 0.00005
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) rs1802959 0.00001
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211 0.00001
NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr) rs1488213352 0.00001
NM_000295.5(SERPINA1):c.552del (p.Asp183_Tyr184insTer) rs267606950 0.00001
NM_000295.5(SERPINA1):c.646+1G>T rs751235320 0.00001
NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser) rs11558261 0.00001
NC_000014.8:g.(?_94843455)_(94847488_?)del
NC_000014.8:g.(?_94843455)_(94854896_?)del
NC_000014.8:g.(?_94847198)_(94854896_?)del
NC_000014.9:g.[94380925T>A;94382636T>C]
NC_000014.9:g.[94380925T>A;94383048G>T]
NM_000295.4(SERPINA1):c.[1096G>A;35T>C]
NM_000295.4(SERPINA1):c.[1158dupC;863A>T]
NM_000295.5(SERPINA1):c.-5+1G>A
NM_000295.5(SERPINA1):c.1052del (p.Leu351fs) rs72555374
NM_000295.5(SERPINA1):c.1064_1066-3del (p.Lys355_Ala356=) rs1555367896
NM_000295.5(SERPINA1):c.1072_1073del (p.Val357_His358insTer) rs1555367892
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs) rs864622043
NM_000295.5(SERPINA1):c.1113_1114del (p.Ala372fs) rs2139665561
NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs) rs763023697
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr) rs61761869
NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg) rs199422209
NM_000295.5(SERPINA1):c.1del (p.Met1fs) rs1555369299
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000295.5(SERPINA1):c.227T>C (p.Phe76Ser) rs1555369172
NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro) rs113817720
NM_000295.5(SERPINA1):c.288_291del (p.His97fs) rs1057516212
NM_000295.5(SERPINA1):c.343C>T (p.Gln115Ter)
NM_000295.5(SERPINA1):c.403C>T (p.Gln135Ter)
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.568C>T (p.Gln190Ter)
NM_000295.5(SERPINA1):c.585_586delinsA (p.Asp195fs) rs1566756379
NM_000295.5(SERPINA1):c.607_608del (p.Asp203fs) rs2139691603
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs) rs921982028
NM_000295.5(SERPINA1):c.647del rs1555368758
NM_000295.5(SERPINA1):c.787del (p.Val263fs) rs1200349975
NM_000295.5(SERPINA1):c.82del (p.Gln28fs)
NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro) rs1566753480
NM_000295.5(SERPINA1):c.841G>T (p.Glu281Ter) rs760917668
NM_000295.5(SERPINA1):c.847A>T (p.Lys283Ter)
NM_000295.5(SERPINA1):c.853C>T (p.Gln285Ter)
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) rs1555368557
NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg) rs121912713
NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) rs55819880
NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu) rs28931568
NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn) rs28931572
NM_001127701.1(SERPINA1):c.[187C>T;739C>T]
PI NULL(HONG KONG 1) rs1057519610
PI NULL(PROCIDA)
QOgranite falls allele

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