ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.*1703C>T rs877081 0.11366
NM_000295.5(SERPINA1):c.*1331G>A rs11568814 0.07789
NM_000295.4(SERPINA1):c.-223A>G rs55967149 0.03970
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800 0.03703
NM_000295.5(SERPINA1):c.*1555C>T rs56325294 0.03636
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=) rs34112109 0.01536
NM_000295.5(SERPINA1):c.*326A>G rs7144409 0.01528
NM_000295.5(SERPINA1):c.1068C>T (p.Ala356=) rs9630 0.00897
NM_000295.4(SERPINA1):c.-208C>T rs55973910 0.00679
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile) rs139964603 0.00084
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=) rs147283849 0.00064
NM_000295.5(SERPINA1):c.51C>T (p.Cys17=) rs143920236 0.00056
NM_000295.5(SERPINA1):c.879C>A (p.His293Gln) rs141095970 0.00054
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=) rs138611390 0.00035
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00033
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=) rs150784949 0.00026
NM_000295.5(SERPINA1):c.546C>T (p.Asn182=) rs113813309 0.00016
NM_000295.5(SERPINA1):c.918-4A>G rs367822021 0.00013
NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met) rs373630097 0.00011
NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=) rs766128806 0.00011
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr) rs113817720 0.00011
NM_000295.5(SERPINA1):c.718G>A (p.Val240Met) rs72552401 0.00011
NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg) rs550592374 0.00009
NM_000295.5(SERPINA1):c.1225A>G (p.Met409Val) rs149800596 0.00007
NM_000295.5(SERPINA1):c.918-5G>A rs375378877 0.00007
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=) rs150455534 0.00007
NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=) rs148362959 0.00006
NM_000295.5(SERPINA1):c.201C>G (p.His67Gln) rs140744031 0.00006
NM_000295.5(SERPINA1):c.6G>A (p.Pro2=) rs200936638 0.00006
NM_000295.5(SERPINA1):c.426G>A (p.Leu142=) rs758835662 0.00005
NM_000295.5(SERPINA1):c.513C>T (p.Phe171=) rs190838132 0.00005
NM_000295.5(SERPINA1):c.1155C>T (p.Pro385=) rs774551181 0.00004
NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg) rs11575873 0.00004
NM_000295.5(SERPINA1):c.231C>T (p.Ser77=) rs746839619 0.00004
NM_000295.5(SERPINA1):c.336G>A (p.Pro112=) rs753313462 0.00004
NM_000295.5(SERPINA1):c.648C>A (p.Gly216=) rs754816836 0.00004
NM_000295.5(SERPINA1):c.681C>T (p.Thr227=) rs766320203 0.00004
NM_000295.5(SERPINA1):c.873C>T (p.Leu291=) rs779573811 0.00004
NM_000295.5(SERPINA1):c.918-6C>T rs534650421 0.00004
NM_000295.5(SERPINA1):c.1158C>T (p.Pro386=) rs143329723 0.00003
NM_000295.5(SERPINA1):c.291C>T (p.His97=) rs781502220 0.00003
NM_000295.5(SERPINA1):c.399G>A (p.Gln133=) rs1237415484 0.00003
NM_000295.5(SERPINA1):c.426G>T (p.Leu142=) rs758835662 0.00003
NM_000295.5(SERPINA1):c.470A>G (p.Asp157Gly) rs749118243 0.00003
NM_000295.5(SERPINA1):c.538C>G (p.Gln180Glu) rs864622051 0.00003
NM_000295.5(SERPINA1):c.740G>A (p.Arg247His) rs544632177 0.00003
NM_000295.5(SERPINA1):c.819C>T (p.Thr273=) rs2230075 0.00003
NM_000295.5(SERPINA1):c.894G>T (p.Lys298Asn) rs957169128 0.00003
NM_000295.5(SERPINA1):c.18G>A (p.Ser6=) rs1343069141 0.00002
NM_000295.5(SERPINA1):c.1000A>G (p.Lys334Glu) rs1444508096 0.00001
NM_000295.5(SERPINA1):c.1027T>G (p.Ser343Ala) rs1400497428 0.00001
NM_000295.5(SERPINA1):c.102G>A (p.Lys34=) rs864622049 0.00001
NM_000295.5(SERPINA1):c.1065+10C>T rs56388024 0.00001
NM_000295.5(SERPINA1):c.1092C>T (p.Ile364=) rs772289957 0.00001
NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val) rs864622046 0.00001
NM_000295.5(SERPINA1):c.1104G>A (p.Gly368=) rs1378794678 0.00001
NM_000295.5(SERPINA1):c.1152C>T (p.Ile384=) rs764340766 0.00001
NM_000295.5(SERPINA1):c.1179C>T (p.Pro393=) rs746728426 0.00001
NM_000295.5(SERPINA1):c.138C>G (p.Thr46=) rs1052327215 0.00001
NM_000295.5(SERPINA1):c.156C>A (p.Pro52=) rs1240367008 0.00001
NM_000295.5(SERPINA1):c.207C>T (p.Ser69=) rs974200634 0.00001
NM_000295.5(SERPINA1):c.324C>T (p.Leu108=) rs1555369128 0.00001
NM_000295.5(SERPINA1):c.396C>T (p.Ser132=) rs1402627363 0.00001
NM_000295.5(SERPINA1):c.414C>T (p.Thr138=) rs541545839 0.00001
NM_000295.5(SERPINA1):c.450A>G (p.Leu150=) rs146596574 0.00001
NM_000295.5(SERPINA1):c.453G>A (p.Val151=) rs1419638250 0.00001
NM_000295.5(SERPINA1):c.477A>G (p.Lys159=) rs771199057 0.00001
NM_000295.5(SERPINA1):c.54G>T (p.Leu18=) rs745679666 0.00001
NM_000295.5(SERPINA1):c.579T>A (p.Ile193=) rs1162891460 0.00001
NM_000295.5(SERPINA1):c.587T>C (p.Leu196Ser) rs368433503 0.00001
NM_000295.5(SERPINA1):c.627G>A (p.Val209=) rs756577084 0.00001
NM_000295.5(SERPINA1):c.666T>C (p.Phe222=) rs990415545 0.00001
NM_000295.5(SERPINA1):c.66C>T (p.Ser22=) rs764012079 0.00001
NM_000295.5(SERPINA1):c.707A>G (p.Gln236Arg) rs746531546 0.00001
NM_000295.5(SERPINA1):c.717C>T (p.Thr239=) rs200634040 0.00001
NM_000295.5(SERPINA1):c.723G>A (p.Lys241=) rs1182248085 0.00001
NM_000295.5(SERPINA1):c.727C>T (p.Pro243Ser) rs1316729320 0.00001
NM_000295.5(SERPINA1):c.795G>A (p.Leu265=) rs749044003 0.00001
NM_000295.5(SERPINA1):c.878A>G (p.His293Arg) rs1281598461 0.00001
NM_000295.5(SERPINA1):c.918-9G>T rs752147685 0.00001
NM_000295.5(SERPINA1):c.926G>A (p.Ser309Asn) rs773222881 0.00001
NM_000295.5(SERPINA1):c.96C>T (p.Ala32=) rs1595615037 0.00001
NM_000295.5(SERPINA1):c.975C>T (p.Ser325=) rs764238790 0.00001
NM_000295.5(SERPINA1):c.978C>T (p.Val326=) rs752267053 0.00001
NM_000295.5(SERPINA1):c.99G>A (p.Gln33=) rs1897072904 0.00001
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.1014T>A (p.Asn338Lys) rs371761828
NM_000295.5(SERPINA1):c.1023C>T (p.Asp341=)
NM_000295.5(SERPINA1):c.102G>T (p.Lys34Asn) rs864622049
NM_000295.5(SERPINA1):c.1047A>G (p.Ala349=) rs1303463945
NM_000295.5(SERPINA1):c.1050C>G (p.Pro350=)
NM_000295.5(SERPINA1):c.1064A>G (p.Lys355Arg) rs864622055
NM_000295.5(SERPINA1):c.1065+16C>T
NM_000295.5(SERPINA1):c.1065+17G>A
NM_000295.5(SERPINA1):c.1065+19C>T
NM_000295.5(SERPINA1):c.1065+7T>C rs2139672307
NM_000295.5(SERPINA1):c.1066-14T>C
NM_000295.5(SERPINA1):c.1066-14_1066-12del
NM_000295.5(SERPINA1):c.1066-15T>C
NM_000295.5(SERPINA1):c.1066-17G>C
NM_000295.5(SERPINA1):c.1066-20T>A
NM_000295.5(SERPINA1):c.1066-5T>G
NM_000295.5(SERPINA1):c.1066-6C>T
NM_000295.5(SERPINA1):c.1077G>A (p.Lys359=)
NM_000295.5(SERPINA1):c.1083G>T (p.Val361=) rs13868
NM_000295.5(SERPINA1):c.108T>C (p.Asp36=)
NM_000295.5(SERPINA1):c.1092C>A (p.Ile364=)
NM_000295.5(SERPINA1):c.1093G>T (p.Asp365Tyr) rs143370956
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=) rs201774333
NM_000295.5(SERPINA1):c.1119G>A (p.Gly373=) rs376061125
NM_000295.5(SERPINA1):c.111A>G (p.Thr37=)
NM_000295.5(SERPINA1):c.1121C>A (p.Ala374Asp) rs1566748077
NM_000295.5(SERPINA1):c.1122C>T (p.Ala374=) rs2139665392
NM_000295.5(SERPINA1):c.1132G>A (p.Glu378Lys) rs1566747984
NM_000295.5(SERPINA1):c.1136C>A (p.Ala379Asp) rs1291036417
NM_000295.5(SERPINA1):c.1176A>G (p.Lys392=) rs1216502935
NM_000295.5(SERPINA1):c.1208C>T (p.Thr403Ile) rs778747339
NM_000295.5(SERPINA1):c.1221C>T (p.Leu407=) rs767700105
NM_000295.5(SERPINA1):c.123T>C (p.Asp41=)
NM_000295.5(SERPINA1):c.1248C>A (p.Thr416=) rs1896524249
NM_000295.5(SERPINA1):c.135A>C (p.Pro45=) rs1314550300
NM_000295.5(SERPINA1):c.144C>T (p.Asn48=) rs1595614724
NM_000295.5(SERPINA1):c.153C>T (p.Thr51=) rs1595614683
NM_000295.5(SERPINA1):c.162G>C (p.Leu54=)
NM_000295.5(SERPINA1):c.180C>G (p.Ser60Arg) rs864622045
NM_000295.5(SERPINA1):c.188G>T (p.Arg63Leu) rs764726147
NM_000295.5(SERPINA1):c.189C>T (p.Arg63=)
NM_000295.5(SERPINA1):c.199C>A (p.His67Asn) rs864622050
NM_000295.5(SERPINA1):c.210C>T (p.Asn70=)
NM_000295.5(SERPINA1):c.237G>A (p.Val79=)
NM_000295.5(SERPINA1):c.246T>C (p.Ala82=)
NM_000295.5(SERPINA1):c.24C>T (p.Gly8=)
NM_000295.5(SERPINA1):c.279G>A (p.Lys93=)
NM_000295.5(SERPINA1):c.27C>A (p.Ile9=)
NM_000295.5(SERPINA1):c.294T>C (p.Asp98=)
NM_000295.5(SERPINA1):c.297A>C (p.Glu99Asp) rs1566757757
NM_000295.5(SERPINA1):c.30C>T (p.Leu10=)
NM_000295.5(SERPINA1):c.318C>T (p.Phe106=) rs1281659812
NM_000295.5(SERPINA1):c.321C>T (p.Asn107=) rs1897043908
NM_000295.5(SERPINA1):c.356G>T (p.Gly119Val) rs749295615
NM_000295.5(SERPINA1):c.369C>A (p.Leu123=) rs2139693491
NM_000295.5(SERPINA1):c.372C>A (p.Leu124=)
NM_000295.5(SERPINA1):c.372C>T (p.Leu124=) rs2139693471
NM_000295.5(SERPINA1):c.393C>T (p.Asp131=) rs2139693281
NM_000295.5(SERPINA1):c.411C>G (p.Thr137=)
NM_000295.5(SERPINA1):c.423C>A (p.Gly141=)
NM_000295.5(SERPINA1):c.435C>T (p.Ser145=)
NM_000295.5(SERPINA1):c.441C>G (p.Gly147=)
NM_000295.5(SERPINA1):c.465G>A (p.Leu155=)
NM_000295.5(SERPINA1):c.469G>A (p.Asp157Asn) rs1595612771
NM_000295.5(SERPINA1):c.481T>C (p.Leu161=)
NM_000295.5(SERPINA1):c.483G>A (p.Leu161=)
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg) rs112030253
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp) rs112030253
NM_000295.5(SERPINA1):c.519C>T (p.Asp173=)
NM_000295.5(SERPINA1):c.54G>A (p.Leu18=) rs745679666
NM_000295.5(SERPINA1):c.54G>C (p.Leu18=)
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=) rs199422210
NM_000295.5(SERPINA1):c.555G>A (p.Val185=)
NM_000295.5(SERPINA1):c.558G>A (p.Glu186=)
NM_000295.5(SERPINA1):c.561G>A (p.Lys187=)
NM_000295.5(SERPINA1):c.564T>A (p.Gly188=) rs769830846
NM_000295.5(SERPINA1):c.573G>A (p.Gly191=)
NM_000295.5(SERPINA1):c.600T>C (p.Leu200=)
NM_000295.5(SERPINA1):c.618T>C (p.Phe206=)
NM_000295.5(SERPINA1):c.627G>C (p.Val209=)
NM_000295.5(SERPINA1):c.631T>C (p.Tyr211His) rs864622052
NM_000295.5(SERPINA1):c.646+15C>A
NM_000295.5(SERPINA1):c.646+15C>T
NM_000295.5(SERPINA1):c.646+16C>T
NM_000295.5(SERPINA1):c.646+18G>C
NM_000295.5(SERPINA1):c.647-10C>A rs752544117
NM_000295.5(SERPINA1):c.647-13C>T
NM_000295.5(SERPINA1):c.647-4C>T
NM_000295.5(SERPINA1):c.647-8C>T rs950358984
NM_000295.5(SERPINA1):c.647-9del rs1566754489
NM_000295.5(SERPINA1):c.654G>T (p.Trp218Cys) rs1445192595
NM_000295.5(SERPINA1):c.663C>T (p.Pro221=) rs1896884042
NM_000295.5(SERPINA1):c.664T>C (p.Phe222Leu) rs1555368744
NM_000295.5(SERPINA1):c.681C>G (p.Thr227=) rs766320203
NM_000295.5(SERPINA1):c.699C>T (p.His233=)
NM_000295.5(SERPINA1):c.69G>A (p.Leu23=)
NM_000295.5(SERPINA1):c.708G>A (p.Gln236=)
NM_000295.5(SERPINA1):c.714C>T (p.Thr238=) rs2139683146
NM_000295.5(SERPINA1):c.735G>A (p.Met245Ile) rs864622053
NM_000295.5(SERPINA1):c.737A>C (p.Lys246Thr) rs864622054
NM_000295.5(SERPINA1):c.738G>A (p.Lys246=) rs2139682908
NM_000295.5(SERPINA1):c.742T>C (p.Leu248=) rs2139682850
NM_000295.5(SERPINA1):c.747C>G (p.Gly249=)
NM_000295.5(SERPINA1):c.761A>G (p.Gln254Arg) rs1566753789
NM_000295.5(SERPINA1):c.768T>C (p.Cys256=)
NM_000295.5(SERPINA1):c.771G>A (p.Lys257=)
NM_000295.5(SERPINA1):c.779C>T (p.Ser260Phe) rs1595607823
NM_000295.5(SERPINA1):c.805C>T (p.Leu269=) rs2139682364
NM_000295.5(SERPINA1):c.819C>A (p.Thr273=)
NM_000295.5(SERPINA1):c.825C>T (p.Ile275=)
NM_000295.5(SERPINA1):c.828C>T (p.Phe276=) rs1566753494
NM_000295.5(SERPINA1):c.856C>T (p.His286Tyr)
NM_000295.5(SERPINA1):c.861G>A (p.Leu287=) rs1251203297
NM_000295.5(SERPINA1):c.879C>G (p.His293Gln) rs141095970
NM_000295.5(SERPINA1):c.879C>T (p.His293=) rs141095970
NM_000295.5(SERPINA1):c.891C>G (p.Thr297=)
NM_000295.5(SERPINA1):c.897C>T (p.Phe299=)
NM_000295.5(SERPINA1):c.899T>C (p.Leu300Pro) rs550592374
NM_000295.5(SERPINA1):c.89A>T (p.Asp30Val) rs864622048
NM_000295.5(SERPINA1):c.907G>C (p.Glu303Gln) rs1802963
NM_000295.5(SERPINA1):c.912C>T (p.Asp304=)
NM_000295.5(SERPINA1):c.917+13C>A
NM_000295.5(SERPINA1):c.917+20G>C
NM_000295.5(SERPINA1):c.917+9C>T
NM_000295.5(SERPINA1):c.934T>C (p.Leu312=) rs2139673576
NM_000295.5(SERPINA1):c.943C>T (p.Leu315=)
NM_000295.5(SERPINA1):c.963T>C (p.Tyr321=)
NM_000295.5(SERPINA1):c.987A>G (p.Gln329=)
NM_000295.5(SERPINA1):c.996C>A (p.Ile332=)
NM_000295.5(SERPINA1):c.999T>C (p.Thr333=) rs181491831

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