ClinVar Miner

List of variants in gene SERPINA1 studied for alpha 1-antitrypsin deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 405
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HGVS dbSNP gnomAD frequency
NM_000295.5(SERPINA1):c.*968T>C rs1243166 0.70142
NM_000295.5(SERPINA1):c.*1221A>G rs11832 0.62751
NM_000295.5(SERPINA1):c.*854T>C rs1051052 0.47855
NM_000295.5(SERPINA1):c.*481G>A rs1243165 0.31650
NM_000295.5(SERPINA1):c.*316G>T rs1243164 0.30828
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.29917
NM_000295.5(SERPINA1):c.*224G>A rs2073333 0.22803
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.12614
NC_000014.9:g.94376746G>A rs877081 0.11366
NM_000295.5(SERPINA1):c.*1067G>A rs11628917 0.09897
NM_000295.5(SERPINA1):c.*1331G>A rs11568814 0.07789
NM_000295.4(SERPINA1):c.-223A>G rs55967149 0.03940
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.424C>T (p.Leu142=) rs20546 0.03081
NM_000295.5(SERPINA1):c.*80C>T rs1243163 0.02886
NM_000295.5(SERPINA1):c.-10T>C rs11558258 0.02846
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02788
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=) rs34112109 0.01536
NM_000295.5(SERPINA1):c.*326A>G rs7144409 0.01528
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
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.*1292C>T rs78367974 0.00599
NM_000295.5(SERPINA1):c.522C>T (p.Thr174=) rs72552402 0.00522
NM_000295.5(SERPINA1):c.*1414G>A rs139506803 0.00520
NM_000295.5(SERPINA1):c.*1287G>A rs9944155 0.00427
NM_000295.5(SERPINA1):c.*500G>A rs111349695 0.00423
NM_000295.4(SERPINA1):c.-188G>A rs55961721 0.00316
NM_000295.5(SERPINA1):c.*1141A>G rs139136785 0.00237
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00215
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00199
NM_000295.5(SERPINA1):c.*792C>T rs139984116 0.00150
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_000295.5(SERPINA1):c.*1066G>C rs576539120 0.00108
NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile) rs139964603 0.00078
NM_000295.5(SERPINA1):c.*1567C>G rs79555504 0.00076
NM_000295.5(SERPINA1):c.*410A>C rs1214498546 0.00071
NM_000295.5(SERPINA1):c.1065+16C>T rs370808877 0.00061
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=) rs147283849 0.00061
NM_000295.5(SERPINA1):c.51C>T (p.Cys17=) rs143920236 0.00054
NM_000295.5(SERPINA1):c.879C>A (p.His293Gln) rs141095970 0.00054
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00042
NM_000295.5(SERPINA1):c.-7A>G rs559054925 0.00041
NM_000295.5(SERPINA1):c.856C>T (p.His286Tyr) rs149537225 0.00040
NM_000295.5(SERPINA1):c.*696C>T rs777765085 0.00039
NM_000295.5(SERPINA1):c.*853C>T rs188391982 0.00036
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=) rs150784949 0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_000295.5(SERPINA1):c.*627G>A rs904880962 0.00032
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00032
NM_000295.5(SERPINA1):c.250G>A (p.Ala84Thr) rs111850950 0.00031
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=) rs138611390 0.00031
NM_000295.5(SERPINA1):c.*678C>T rs151205402 0.00029
NM_000295.5(SERPINA1):c.*741C>T rs142149216 0.00022
NM_000295.5(SERPINA1):c.1061C>T (p.Ser354Phe) rs201788603 0.00021
NM_000295.5(SERPINA1):c.*1195G>A rs886050918 0.00019
NM_000295.5(SERPINA1):c.*371G>T rs539955367 0.00018
NM_000295.5(SERPINA1):c.718G>A (p.Val240Met) rs72552401 0.00017
NM_000295.5(SERPINA1):c.546C>T (p.Asn182=) rs113813309 0.00016
NM_000295.5(SERPINA1):c.*946C>T rs184719827 0.00014
NM_000295.4(SERPINA1):c.-176C>T rs756761971 0.00013
NM_000295.5(SERPINA1):c.918-4A>G rs367822021 0.00012
NM_000295.5(SERPINA1):c.*263C>T rs753776140 0.00011
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_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_000295.5(SERPINA1):c.*1C>T rs72547410 0.00010
NM_000295.5(SERPINA1):c.*694A>T rs886050920 0.00010
NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg) rs550592374 0.00010
NM_000295.4(SERPINA1):c.-190G>A rs180723265 0.00009
NM_000295.5(SERPINA1):c.327G>A (p.Thr109=) rs764493280 0.00008
NM_000295.5(SERPINA1):c.*1494A>T rs781709902 0.00007
NM_000295.5(SERPINA1):c.1075A>G (p.Lys359Glu) rs200945035 0.00007
NM_000295.5(SERPINA1):c.1225A>G (p.Met409Val) rs149800596 0.00007
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=) rs150455534 0.00007
NM_000295.5(SERPINA1):c.*1235C>T rs886050917 0.00006
NM_000295.5(SERPINA1):c.*1576G>A rs758466620 0.00006
NM_000295.5(SERPINA1):c.*1628G>A rs746099389 0.00006
NM_000295.5(SERPINA1):c.*400C>T rs886050921 0.00006
NM_000295.5(SERPINA1):c.1030G>A (p.Gly344Arg) rs367797069 0.00006
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.206C>T (p.Ser69Phe) rs199687431 0.00006
NM_000295.5(SERPINA1):c.6G>A (p.Pro2=) rs200936638 0.00006
NM_000295.5(SERPINA1):c.740G>A (p.Arg247His) rs544632177 0.00006
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213 0.00006
NM_000295.5(SERPINA1):c.426G>A (p.Leu142=) rs758835662 0.00005
NM_000295.5(SERPINA1):c.436G>A (p.Glu146Lys) rs537285845 0.00005
NM_000295.5(SERPINA1):c.513C>T (p.Phe171=) rs190838132 0.00005
NM_000295.5(SERPINA1):c.646+2T>C rs112661131 0.00005
NM_000295.5(SERPINA1):c.918-5G>A rs375378877 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.246T>C (p.Ala82=) rs1424479586 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.894G>T (p.Lys298Asn) rs957169128 0.00004
NM_000295.5(SERPINA1):c.918-6C>T rs534650421 0.00004
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100 0.00004
NM_000295.4(SERPINA1):c.-215G>C rs979052933 0.00003
NM_000295.5(SERPINA1):c.*18A>G rs371674306 0.00003
NM_000295.5(SERPINA1):c.*725G>A rs886050919 0.00003
NM_000295.5(SERPINA1):c.1029C>T (p.Ser343=) rs760494093 0.00003
NM_000295.5(SERPINA1):c.113C>T (p.Ser38Phe) rs745463238 0.00003
NM_000295.5(SERPINA1):c.1158C>T (p.Pro386=) rs143329723 0.00003
NM_000295.5(SERPINA1):c.155C>T (p.Pro52Leu) rs944607375 0.00003
NM_000295.5(SERPINA1):c.169T>C (p.Phe57Leu) rs1457464431 0.00003
NM_000295.5(SERPINA1):c.231C>T (p.Ser77=) rs746839619 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.435C>T (p.Ser145=) rs11558263 0.00003
NM_000295.5(SERPINA1):c.470A>G (p.Asp157Gly) rs749118243 0.00003
NM_000295.5(SERPINA1):c.519C>T (p.Asp173=) rs1489272666 0.00003
NM_000295.5(SERPINA1):c.646G>T (p.Gly216Cys) rs756773408 0.00003
NM_000295.5(SERPINA1):c.819C>T (p.Thr273=) rs2230075 0.00003
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00003
NM_000295.4(SERPINA1):c.-191C>T rs886050925 0.00002
NM_000295.5(SERPINA1):c.*1061C>T rs1021949490 0.00002
NM_000295.5(SERPINA1):c.1065+17G>A rs753212922 0.00002
NM_000295.5(SERPINA1):c.18G>A (p.Ser6=) rs1343069141 0.00002
NM_000295.5(SERPINA1):c.573G>A (p.Gly191=) rs200414579 0.00002
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu) rs746197812 0.00002
NM_000295.5(SERPINA1):c.943C>T (p.Leu315=) rs2504742155 0.00002
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) rs199422208 0.00002
NM_000295.4(SERPINA1):c.-143C>T rs886050924 0.00001
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.*469G>T rs1896481388 0.00001
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.1050C>G (p.Pro350=) rs2139672482 0.00001
NM_000295.5(SERPINA1):c.1064A>G (p.Lys355Arg) rs864622055 0.00001
NM_000295.5(SERPINA1):c.1065+10C>T rs56388024 0.00001
NM_000295.5(SERPINA1):c.1066-14T>C rs1260307845 0.00001
NM_000295.5(SERPINA1):c.1066-6C>T rs1896568699 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.115C>A (p.His39Asn) rs138070585 0.00001
NM_000295.5(SERPINA1):c.1179C>T (p.Pro393=) rs746728426 0.00001
NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr) rs1488213352 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.236T>A (p.Val79Glu) rs864622047 0.00001
NM_000295.5(SERPINA1):c.24C>T (p.Gly8=) rs772462774 0.00001
NM_000295.5(SERPINA1):c.30C>T (p.Leu10=) rs748608984 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.465G>A (p.Leu155=) rs1566756880 0.00001
NM_000295.5(SERPINA1):c.477A>G (p.Lys159=) rs771199057 0.00001
NM_000295.5(SERPINA1):c.483G>A (p.Leu161=) rs1030600584 0.00001
NM_000295.5(SERPINA1):c.538C>G (p.Gln180Glu) rs864622051 0.00001
NM_000295.5(SERPINA1):c.54G>T (p.Leu18=) rs745679666 0.00001
NM_000295.5(SERPINA1):c.552del (p.Asp183_Tyr184insTer) rs267606950 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.626T>C (p.Val209Ala) rs1555368958 0.00001
NM_000295.5(SERPINA1):c.646+15C>A rs772110022 0.00001
NM_000295.5(SERPINA1):c.646+1G>T rs751235320 0.00001
NM_000295.5(SERPINA1):c.647-13C>T rs756121850 0.00001
NM_000295.5(SERPINA1):c.647-8C>T rs950358984 0.00001
NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter) rs1445192595 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.745G>C (p.Gly249Arg) rs764220898 0.00001
NM_000295.5(SERPINA1):c.768T>C (p.Cys256=) rs8350 0.00001
NM_000295.5(SERPINA1):c.795G>A (p.Leu265=) rs749044003 0.00001
NM_000295.5(SERPINA1):c.825C>T (p.Ile275=) rs1224301655 0.00001
NM_000295.5(SERPINA1):c.853C>T (p.Gln285Ter) rs1480528329 0.00001
NM_000295.5(SERPINA1):c.860T>C (p.Leu287Pro) rs1450795004 0.00001
NM_000295.5(SERPINA1):c.875C>T (p.Thr292Ile) rs745624643 0.00001
NM_000295.5(SERPINA1):c.878A>G (p.His293Arg) rs1281598461 0.00001
NM_000295.5(SERPINA1):c.880G>A (p.Asp294Asn) rs772436715 0.00001
NM_000295.5(SERPINA1):c.912C>T (p.Asp304=) rs1413620832 0.00001
NM_000295.5(SERPINA1):c.917+13C>A rs780022952 0.00001
NM_000295.5(SERPINA1):c.917+20G>C rs984169953 0.00001
NM_000295.5(SERPINA1):c.917+9C>T rs762355697 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_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.-102delC rs202122479
NM_000295.4(SERPINA1):c.-165A>G rs1897465965
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.4(SERPINA1):c.[1096G>A;35T>C]
NM_000295.4(SERPINA1):c.[1158dupC;863A>T]
NM_000295.5(SERPINA1):c.*1173T>C rs554160611
NM_000295.5(SERPINA1):c.*1294T>C rs886050916
NM_000295.5(SERPINA1):c.*172T>C rs886050922
NM_000295.5(SERPINA1):c.*182C>A rs138518740
NM_000295.5(SERPINA1):c.*241G>C rs111978668
NM_000295.5(SERPINA1):c.*315T>G rs1896497491
NM_000295.5(SERPINA1):c.*413C>A rs566212080
NM_000295.5(SERPINA1):c.*419C>A rs529148469
NM_000295.5(SERPINA1):c.*442A>T rs1595596588
NM_000295.5(SERPINA1):c.-5+1G>A rs775786225
NM_000295.5(SERPINA1):c.1014T>A (p.Asn338Lys) rs371761828
NM_000295.5(SERPINA1):c.1014T>C (p.Asn338=) rs371761828
NM_000295.5(SERPINA1):c.1018del (p.Ala340fs) rs1057516929
NM_000295.5(SERPINA1):c.1023C>T (p.Asp341=) rs2504740385
NM_000295.5(SERPINA1):c.102G>T (p.Lys34Asn) rs864622049
NM_000295.5(SERPINA1):c.1038A>G (p.Thr346=)
NM_000295.5(SERPINA1):c.1047A>G (p.Ala349=) rs1303463945
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.1065+10C>A
NM_000295.5(SERPINA1):c.1065+19C>T rs1272855373
NM_000295.5(SERPINA1):c.1065+7T>C rs2139672307
NM_000295.5(SERPINA1):c.1066-14T>G
NM_000295.5(SERPINA1):c.1066-14_1066-12del rs767091266
NM_000295.5(SERPINA1):c.1066-15T>C rs2504729535
NM_000295.5(SERPINA1):c.1066-17G>C rs1338970222
NM_000295.5(SERPINA1):c.1066-1G>T rs1555367897
NM_000295.5(SERPINA1):c.1066-20T>A rs779594992
NM_000295.5(SERPINA1):c.1066-5T>G rs2504729303
NM_000295.5(SERPINA1):c.1072_1073del (p.Val357_His358insTer) rs1555367892
NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg) rs1555367891
NM_000295.5(SERPINA1):c.1077G>A (p.Lys359=) rs2504728850
NM_000295.5(SERPINA1):c.1083G>T (p.Val361=) rs13868
NM_000295.5(SERPINA1):c.108T>C (p.Asp36=) rs762571838
NM_000295.5(SERPINA1):c.1092C>A (p.Ile364=) rs772289957
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.1096G>C (p.Glu366Gln) rs28929474
NM_000295.5(SERPINA1):c.1097A>G (p.Glu366Gly) rs2504728206
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.1119G>A (p.Gly373=) rs376061125
NM_000295.5(SERPINA1):c.111A>G (p.Thr37=) rs775022137
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.1130dup (p.Leu377fs) rs763023697
NM_000295.5(SERPINA1):c.1132G>A (p.Glu378Lys) rs1566747984
NM_000295.5(SERPINA1):c.1133_1134insTA (p.Glu378fs) rs1389973852
NM_000295.5(SERPINA1):c.1135del (p.Ala379fs)
NM_000295.5(SERPINA1):c.1136C>A (p.Ala379Asp) rs1291036417
NM_000295.5(SERPINA1):c.1156C>G (p.Pro386Ala)
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1176A>G (p.Lys392=) rs1216502935
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.1179del (p.Phe394fs) rs2504726611
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=) rs2504783265
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=) rs911691826
NM_000295.5(SERPINA1):c.180C>G (p.Ser60Arg) rs864622045
NM_000295.5(SERPINA1):c.180C>T (p.Ser60=)
NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter) rs762321137
NM_000295.5(SERPINA1):c.188G>T (p.Arg63Leu) rs764726147
NM_000295.5(SERPINA1):c.189C>T (p.Arg63=) rs1566758278
NM_000295.5(SERPINA1):c.199C>A (p.His67Asn) rs864622050
NM_000295.5(SERPINA1):c.1A>G (p.Met1Val) rs1057516555
NM_000295.5(SERPINA1):c.1del (p.Met1fs) rs1555369299
NM_000295.5(SERPINA1):c.210C>T (p.Asn70=) rs2504781511
NM_000295.5(SERPINA1):c.216del (p.Asn73fs) rs2504781328
NM_000295.5(SERPINA1):c.21G>A (p.Trp7Ter) rs370038282
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.237G>A (p.Val79=) rs2504781030
NM_000295.5(SERPINA1):c.243C>T (p.Ile81=)
NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro) rs113817720
NM_000295.5(SERPINA1):c.250_257dup (p.Met87fs) rs2504780722
NM_000295.5(SERPINA1):c.279G>A (p.Lys93=) rs2504780359
NM_000295.5(SERPINA1):c.27C>A (p.Ile9=) rs11558260
NM_000295.5(SERPINA1):c.288_291del (p.His97fs) rs1057516212
NM_000295.5(SERPINA1):c.290dup (p.His97fs) rs1897046798
NM_000295.5(SERPINA1):c.294T>C (p.Asp98=) rs2504779992
NM_000295.5(SERPINA1):c.297A>C (p.Glu99Asp) rs1566757757
NM_000295.5(SERPINA1):c.299T>A (p.Ile100Asn) rs1555369135
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.323T>G (p.Leu108Arg)
NM_000295.5(SERPINA1):c.333T>G (p.Ile111Met) rs886050923
NM_000295.5(SERPINA1):c.343C>T (p.Gln115Ter) rs1897040319
NM_000295.5(SERPINA1):c.351_352del (p.His117fs) rs2504778973
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=) rs2139693471
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.403C>T (p.Gln135Ter) rs2504778008
NM_000295.5(SERPINA1):c.411C>G (p.Thr137=) rs1344951022
NM_000295.5(SERPINA1):c.423C>A (p.Gly141=) rs368415110
NM_000295.5(SERPINA1):c.441C>G (p.Gly147=) rs2504777432
NM_000295.5(SERPINA1):c.469G>A (p.Asp157Asn) rs1595612771
NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter) rs2504776911
NM_000295.5(SERPINA1):c.480del (p.Lys160fs) rs2504776767
NM_000295.5(SERPINA1):c.481T>C (p.Leu161=) rs2504776733
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.538C>T (p.Gln180Ter) rs864622051
NM_000295.5(SERPINA1):c.549T>C (p.Asp183=)
NM_000295.5(SERPINA1):c.54G>A (p.Leu18=) rs745679666
NM_000295.5(SERPINA1):c.54G>C (p.Leu18=) rs745679666
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter) rs199422210
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=) rs199422210
NM_000295.5(SERPINA1):c.555G>A (p.Val185=) rs1362069336
NM_000295.5(SERPINA1):c.557del (p.Glu186fs) rs2504775604
NM_000295.5(SERPINA1):c.558G>A (p.Glu186=) rs2504775554
NM_000295.5(SERPINA1):c.561G>A (p.Lys187=) rs2504775485
NM_000295.5(SERPINA1):c.564T>A (p.Gly188=) rs769830846
NM_000295.5(SERPINA1):c.568C>T (p.Gln190Ter) rs2504775350
NM_000295.5(SERPINA1):c.585_586delinsA (p.Asp195fs) rs1566756379
NM_000295.5(SERPINA1):c.600T>C (p.Leu200=) rs779194062
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.618T>C (p.Phe206=) rs2504774452
NM_000295.5(SERPINA1):c.627G>A (p.Val209=) rs756577084
NM_000295.5(SERPINA1):c.627G>C (p.Val209=) rs756577084
NM_000295.5(SERPINA1):c.628A>T (p.Asn210Tyr)
NM_000295.5(SERPINA1):c.631T>C (p.Tyr211His) rs864622052
NM_000295.5(SERPINA1):c.646+15C>T rs772110022
NM_000295.5(SERPINA1):c.646+16C>T rs2504773905
NM_000295.5(SERPINA1):c.646+18G>C rs1409494337
NM_000295.5(SERPINA1):c.647-10C>A rs752544117
NM_000295.5(SERPINA1):c.647-2A>C rs2504760831
NM_000295.5(SERPINA1):c.647-4C>T rs765065881
NM_000295.5(SERPINA1):c.647-9del rs1566754489
NM_000295.5(SERPINA1):c.647del rs1555368758
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.673A>T (p.Lys225Ter) rs11558264
NM_000295.5(SERPINA1):c.681C>G (p.Thr227=) rs766320203
NM_000295.5(SERPINA1):c.699C>T (p.His233=) rs775672099
NM_000295.5(SERPINA1):c.69G>A (p.Leu23=) rs2504784381
NM_000295.5(SERPINA1):c.708G>A (p.Gln236=) rs2504759754
NM_000295.5(SERPINA1):c.714C>T (p.Thr238=) rs2139683146
NM_000295.5(SERPINA1):c.714del (p.Thr239fs) rs1057516448
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=) rs775725332
NM_000295.5(SERPINA1):c.754_764dup (p.His255fs) rs2504758932
NM_000295.5(SERPINA1):c.761A>G (p.Gln254Arg) rs1566753789
NM_000295.5(SERPINA1):c.771G>A (p.Lys257=) rs376294932
NM_000295.5(SERPINA1):c.779C>T (p.Ser260Phe) rs1595607823
NM_000295.5(SERPINA1):c.787del (p.Val263fs) rs1200349975
NM_000295.5(SERPINA1):c.805C>T (p.Leu269=) rs2139682364
NM_000295.5(SERPINA1):c.819C>A (p.Thr273=) rs2230075
NM_000295.5(SERPINA1):c.828C>T (p.Phe276=) rs1566753494
NM_000295.5(SERPINA1):c.82del (p.Gln28fs) rs2504784138
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) rs1566753359
NM_000295.5(SERPINA1):c.848A>T (p.Lys283Ile) rs864622044
NM_000295.5(SERPINA1):c.861G>A (p.Leu287=) rs1251203297
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) rs1555368557
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.882T>C (p.Asp294=)
NM_000295.5(SERPINA1):c.891C>G (p.Thr297=) rs1896853487
NM_000295.5(SERPINA1):c.897C>T (p.Phe299=) rs2504757077
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.917+12A>G
NM_000295.5(SERPINA1):c.917+1G>A
NM_000295.5(SERPINA1):c.918-14T>C
NM_000295.5(SERPINA1):c.934T>C (p.Leu312=) rs2139673576
NM_000295.5(SERPINA1):c.958A>C (p.Thr320Pro) rs746155701
NM_000295.5(SERPINA1):c.963T>C (p.Tyr321=) rs1406922570
NM_000295.5(SERPINA1):c.987A>G (p.Gln329=) rs1595602352
NM_000295.5(SERPINA1):c.996C>A (p.Ile332=) rs1896695807
NM_000295.5(SERPINA1):c.999T>C (p.Thr333=) rs181491831
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.77A>C (p.Asp26Ala) rs199422212
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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