ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
Download table as spreadsheet
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.