ClinVar Miner

List of variants in gene AIRE reported as uncertain significance for parathyroid gland disorder

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 339
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.652+14C>T rs41277546 0.01242
NM_000383.4(AIRE):c.1279-18C>T rs72650678 0.00839
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000383.4(AIRE):c.901G>A (p.Val301Met) rs150634562 0.00092
NM_000383.4(AIRE):c.447G>A (p.Arg149=) rs374704178 0.00069
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu) rs140196414 0.00036
NM_000383.4(AIRE):c.457A>G (p.Ser153Gly) rs200377867 0.00032
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg) rs373993732 0.00031
NM_000383.4(AIRE):c.982C>T (p.Arg328Trp) rs74162063 0.00028
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946 0.00024
NM_000383.4(AIRE):c.793G>A (p.Ala265Thr) rs140835367 0.00024
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn) rs146810389 0.00023
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg) rs148012328 0.00022
NM_000383.4(AIRE):c.169C>G (p.Gln57Glu) rs200955183 0.00020
NM_000383.4(AIRE):c.538+7G>A rs575144370 0.00019
NM_000383.4(AIRE):c.1244A>G (p.His415Arg) rs149609996 0.00017
NM_000383.4(AIRE):c.538+6C>T rs371847563 0.00017
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp) rs376901046 0.00016
NM_000383.4(AIRE):c.748A>T (p.Ser250Cys) rs141480813 0.00016
NM_000383.4(AIRE):c.1312G>A (p.Gly438Arg) rs553396434 0.00015
NM_000383.4(AIRE):c.600G>A (p.Pro200=) rs754331960 0.00015
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr) rs561652010 0.00014
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg) rs200899780 0.00014
NM_000383.4(AIRE):c.880-7G>A rs141955483 0.00014
NM_000383.4(AIRE):c.560C>T (p.Ser187Leu) rs143952576 0.00012
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu) rs368331265 0.00011
NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln) rs139835427 0.00011
NM_000383.4(AIRE):c.354C>G (p.Val118=) rs528667089 0.00011
NM_000383.4(AIRE):c.825G>C (p.Gln275His) rs1027582142 0.00011
NM_000383.4(AIRE):c.1115C>T (p.Ser372Leu) rs202237214 0.00010
NM_000383.4(AIRE):c.1450G>A (p.Val484Met) rs367966318 0.00010
NM_000383.4(AIRE):c.927C>G (p.Ile309Met) rs74162062 0.00010
NM_000383.4(AIRE):c.485C>T (p.Pro162Leu) rs138949170 0.00009
NM_000383.4(AIRE):c.520C>T (p.Arg174Cys) rs752687905 0.00009
NM_000383.4(AIRE):c.659C>T (p.Ser220Phe) rs753236604 0.00008
NM_000383.4(AIRE):c.1094C>T (p.Pro365Leu) rs374475349 0.00007
NM_000383.4(AIRE):c.1095+10C>T rs372932833 0.00007
NM_000383.4(AIRE):c.1323G>A (p.Thr441=) rs201945690 0.00007
NM_000383.4(AIRE):c.137C>T (p.Thr46Met) rs758870962 0.00007
NM_000383.4(AIRE):c.652+15G>A rs760027964 0.00007
NM_000383.4(AIRE):c.1103C>T (p.Pro368Leu) rs552129156 0.00006
NM_000383.4(AIRE):c.1168A>G (p.Thr390Ala) rs771790456 0.00006
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met) rs201491251 0.00006
NM_000383.4(AIRE):c.608G>A (p.Arg203Gln) rs200359179 0.00006
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser) rs142286875 0.00006
NM_000383.4(AIRE):c.1048C>T (p.Pro350Ser) rs554591629 0.00005
NM_000383.4(AIRE):c.1367G>A (p.Arg456His) rs554954634 0.00005
NM_000383.4(AIRE):c.156G>A (p.Lys52=) rs144396624 0.00005
NM_000383.4(AIRE):c.1081C>T (p.Pro361Ser) rs1267538837 0.00004
NM_000383.4(AIRE):c.1348G>A (p.Ala450Thr) rs758446796 0.00004
NM_000383.4(AIRE):c.1398C>T (p.Pro466=) rs1402673356 0.00004
NM_000383.4(AIRE):c.1403C>T (p.Thr468Met) rs775349581 0.00004
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser) rs753460287 0.00004
NM_000383.4(AIRE):c.328C>T (p.Arg110Trp) rs764029559 0.00004
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu) rs151049459 0.00004
NM_000383.4(AIRE):c.351C>T (p.Ala117=) rs201929488 0.00004
NM_000383.4(AIRE):c.352G>A (p.Val118Ile) rs370599883 0.00004
NM_000383.4(AIRE):c.488C>A (p.Pro163His) rs771592755 0.00004
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser) rs139620961 0.00004
NM_000383.4(AIRE):c.73G>C (p.Ala25Pro) rs761025044 0.00004
NM_000383.4(AIRE):c.740G>A (p.Arg247His) rs763487370 0.00004
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln) rs202027254 0.00004
NM_000383.4(AIRE):c.1031C>T (p.Thr344Ile) rs929430876 0.00003
NM_000383.4(AIRE):c.1327G>A (p.Val443Met) rs557522986 0.00003
NM_000383.4(AIRE):c.1347C>T (p.Cys449=) rs367619299 0.00003
NM_000383.4(AIRE):c.1400+7G>C rs781592443 0.00003
NM_000383.4(AIRE):c.1481G>A (p.Arg494His) rs528762050 0.00003
NM_000383.4(AIRE):c.1620G>A (p.Ala540=) rs372219460 0.00003
NM_000383.4(AIRE):c.872T>C (p.Leu291Pro) rs767272852 0.00003
NM_000383.4(AIRE):c.979C>A (p.Leu327Ile) rs1029648118 0.00003
NM_000383.4(AIRE):c.108C>A (p.Asp36Glu) rs758891043 0.00002
NM_000383.4(AIRE):c.1193C>T (p.Pro398Leu) rs754391375 0.00002
NM_000383.4(AIRE):c.1333C>T (p.Arg445Trp) rs921069738 0.00002
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln) rs753878067 0.00002
NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr) rs373383785 0.00002
NM_000383.4(AIRE):c.1454A>T (p.Glu485Val) rs779510704 0.00002
NM_000383.4(AIRE):c.1612C>T (p.Arg538Cys) rs1416029492 0.00002
NM_000383.4(AIRE):c.790G>A (p.Ala264Thr) rs746154390 0.00002
NM_000383.4(AIRE):c.1015A>G (p.Ser339Gly) rs919219488 0.00001
NM_000383.4(AIRE):c.1063C>A (p.Pro355Thr) rs1405678537 0.00001
NM_000383.4(AIRE):c.1063C>T (p.Pro355Ser) rs1405678537 0.00001
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln) rs752432041 0.00001
NM_000383.4(AIRE):c.1069C>T (p.Pro357Ser) rs200540137 0.00001
NM_000383.4(AIRE):c.1095+5G>T rs1057522692 0.00001
NM_000383.4(AIRE):c.10G>A (p.Asp4Asn) rs1014398252 0.00001
NM_000383.4(AIRE):c.1132A>G (p.Arg378Gly) rs758775963 0.00001
NM_000383.4(AIRE):c.1142C>T (p.Pro381Leu) rs145243072 0.00001
NM_000383.4(AIRE):c.1161C>T (p.Gly387=) rs372895437 0.00001
NM_000383.4(AIRE):c.118G>C (p.Glu40Gln) rs867495755 0.00001
NM_000383.4(AIRE):c.1210G>A (p.Ala404Thr) rs1340047804 0.00001
NM_000383.4(AIRE):c.1214C>T (p.Pro405Leu) rs769719554 0.00001
NM_000383.4(AIRE):c.1223G>C (p.Gly408Ala) rs751963717 0.00001
NM_000383.4(AIRE):c.1243C>T (p.His415Tyr) rs752398254 0.00001
NM_000383.4(AIRE):c.1246C>T (p.Pro416Ser) rs199621393 0.00001
NM_000383.4(AIRE):c.1271G>A (p.Gly424Asp) rs1208287091 0.00001
NM_000383.4(AIRE):c.1278+6C>T rs372612211 0.00001
NM_000383.4(AIRE):c.1289C>T (p.Pro430Leu) rs751271727 0.00001
NM_000383.4(AIRE):c.1294G>A (p.Ala432Thr) rs1296392334 0.00001
NM_000383.4(AIRE):c.1295C>T (p.Ala432Val) rs531220961 0.00001
NM_000383.4(AIRE):c.1338T>C (p.Cys446=) rs979048802 0.00001
NM_000383.4(AIRE):c.1345T>C (p.Cys449Arg) rs957681340 0.00001
NM_000383.4(AIRE):c.1418G>A (p.Arg473Lys) rs750662701 0.00001
NM_000383.4(AIRE):c.1427C>T (p.Ser476Leu) rs754217318 0.00001
NM_000383.4(AIRE):c.1456G>C (p.Gly486Arg) rs749111202 0.00001
NM_000383.4(AIRE):c.1480C>T (p.Arg494Cys) rs1465595959 0.00001
NM_000383.4(AIRE):c.1493G>A (p.Gly498Glu) rs1189029187 0.00001
NM_000383.4(AIRE):c.1619C>T (p.Ala540Val) rs376731017 0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000383.4(AIRE):c.305A>G (p.Lys102Arg) rs777675955 0.00001
NM_000383.4(AIRE):c.353T>A (p.Val118Asp) rs772511282 0.00001
NM_000383.4(AIRE):c.424G>A (p.Ala142Thr) rs755258600 0.00001
NM_000383.4(AIRE):c.454G>A (p.Ala152Thr) rs771314896 0.00001
NM_000383.4(AIRE):c.51G>C (p.Glu17Asp) rs1036995518 0.00001
NM_000383.4(AIRE):c.534G>A (p.Gly178=) rs1160671214 0.00001
NM_000383.4(AIRE):c.538+3G>A rs557176517 0.00001
NM_000383.4(AIRE):c.590G>C (p.Gly197Ala) rs1185406745 0.00001
NM_000383.4(AIRE):c.653-9T>A rs941927668 0.00001
NM_000383.4(AIRE):c.67G>A (p.Asp23Asn) rs975525470 0.00001
NM_000383.4(AIRE):c.794C>T (p.Ala265Val) rs775896896 0.00001
NM_000383.4(AIRE):c.798+5G>A rs1490186498 0.00001
NM_000383.4(AIRE):c.840C>T (p.Pro280=) rs772423300 0.00001
NM_000383.4(AIRE):c.841G>A (p.Ala281Thr) rs778148534 0.00001
NM_000383.4(AIRE):c.843C>T (p.Ala281=) rs769454980 0.00001
NM_000383.4(AIRE):c.860G>A (p.Ser287Asn) rs375819189 0.00001
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys) rs763636007 0.00001
NM_000383.4(AIRE):c.90C>T (p.His30=) rs754316070 0.00001
NM_000383.4(AIRE):c.983G>A (p.Arg328Gln) rs775921321 0.00001
NC_000021.8:g.(?_45717519)_(45717610_?)dup
NC_000021.9:g.(?_44297636)_(44297747_?)dup
NM_000383.3(AIRE):c.-653_-649dup rs1555871683
NM_000383.3(AIRE):c.-656_-655insCCC rs1016179869
NM_000383.4(AIRE):c.-24_1del (p.Met1fs) rs1555871766
NM_000383.4(AIRE):c.-4C>A rs1004208577
NM_000383.4(AIRE):c.1001C>A (p.Thr334Asn)
NM_000383.4(AIRE):c.1010G>T (p.Cys337Phe)
NM_000383.4(AIRE):c.1012T>C (p.Ser338Pro)
NM_000383.4(AIRE):c.1017C>G (p.Ser339Arg)
NM_000383.4(AIRE):c.102C>A (p.Asp34Glu)
NM_000383.4(AIRE):c.1049C>G (p.Pro350Arg) rs1013117342
NM_000383.4(AIRE):c.1051C>G (p.Arg351Gly) rs149078622
NM_000383.4(AIRE):c.1051C>T (p.Arg351Trp)
NM_000383.4(AIRE):c.1052G>A (p.Arg351Gln)
NM_000383.4(AIRE):c.1054_1068del (p.Ala352_Arg356del) rs1481102287
NM_000383.4(AIRE):c.1054_1068dup (p.Ala352_Arg356dup) rs1481102287
NM_000383.4(AIRE):c.1064C>T (p.Pro355Leu)
NM_000383.4(AIRE):c.1065_1079del (p.Arg356_Pro360del) rs1555872876
NM_000383.4(AIRE):c.1078_1089del (p.Pro360_Glu363del) rs1555872881
NM_000383.4(AIRE):c.1084G>A (p.Val362Met) rs763954225
NM_000383.4(AIRE):c.1084G>T (p.Val362Leu) rs763954225
NM_000383.4(AIRE):c.1089G>T (p.Glu363Asp)
NM_000383.4(AIRE):c.108C>G (p.Asp36Glu)
NM_000383.4(AIRE):c.1091C>A (p.Thr364Asn) rs757362732
NM_000383.4(AIRE):c.1091C>G (p.Thr364Ser)
NM_000383.4(AIRE):c.1091C>T (p.Thr364Ile) rs757362732
NM_000383.4(AIRE):c.1094_1095delinsTC (p.Pro365Leu)
NM_000383.4(AIRE):c.1095+23_1095+64del rs1037154559
NM_000383.4(AIRE):c.1095+4T>G
NM_000383.4(AIRE):c.1095G>A (p.Pro365=) rs750688330
NM_000383.4(AIRE):c.1100C>T (p.Pro367Leu)
NM_000383.4(AIRE):c.1102C>G (p.Pro368Ala) rs768381413
NM_000383.4(AIRE):c.1121G>T (p.Gly374Val)
NM_000383.4(AIRE):c.1124A>G (p.Glu375Gly)
NM_000383.4(AIRE):c.1128G>C (p.Glu376Asp)
NM_000383.4(AIRE):c.1136G>A (p.Gly379Asp)
NM_000383.4(AIRE):c.1151C>T (p.Pro384Leu) rs1469479088
NM_000383.4(AIRE):c.1159G>A (p.Gly387Ser)
NM_000383.4(AIRE):c.116C>T (p.Pro39Leu)
NM_000383.4(AIRE):c.1175T>C (p.Leu392Pro)
NM_000383.4(AIRE):c.1181A>G (p.Tyr394Cys) rs763440543
NM_000383.4(AIRE):c.1195G>T (p.Ala399Ser)
NM_000383.4(AIRE):c.1196_1197delinsAC (p.Ala399Asp) rs2040560125
NM_000383.4(AIRE):c.11A>T (p.Asp4Val) rs2146375006
NM_000383.4(AIRE):c.1202C>G (p.Pro401Arg)
NM_000383.4(AIRE):c.1214C>A (p.Pro405Gln)
NM_000383.4(AIRE):c.121G>A (p.Asp41Asn)
NM_000383.4(AIRE):c.1220C>G (p.Pro407Arg) rs2146383548
NM_000383.4(AIRE):c.122A>G (p.Asp41Gly)
NM_000383.4(AIRE):c.1249C>A (p.Leu417Ile) rs1248107084
NM_000383.4(AIRE):c.1256G>A (p.Cys419Tyr) rs756933733
NM_000383.4(AIRE):c.1256G>T (p.Cys419Phe) rs756933733
NM_000383.4(AIRE):c.1271G>T (p.Gly424Val)
NM_000383.4(AIRE):c.1278+5dup rs2146383693
NM_000383.4(AIRE):c.1285G>T (p.Ala429Ser)
NM_000383.4(AIRE):c.1298G>A (p.Arg433His)
NM_000383.4(AIRE):c.1302C>G (p.Cys434Trp)
NM_000383.4(AIRE):c.1310G>A (p.Cys437Tyr)
NM_000383.4(AIRE):c.1317T>G (p.Asp439Glu)
NM_000383.4(AIRE):c.1321A>G (p.Thr441Ala) rs768250058
NM_000383.4(AIRE):c.1327G>C (p.Val443Leu)
NM_000383.4(AIRE):c.1336T>G (p.Cys446Gly) rs1555873106
NM_000383.4(AIRE):c.1344C>G (p.His448Gln) rs201131119
NM_000383.4(AIRE):c.1351G>A (p.Ala451Thr)
NM_000383.4(AIRE):c.1354G>A (p.Ala452Thr) rs1480139411
NM_000383.4(AIRE):c.1366C>T (p.Arg456Cys)
NM_000383.4(AIRE):c.136A>T (p.Thr46Ser) rs2146375707
NM_000383.4(AIRE):c.1373A>G (p.His458Arg) rs1601969955
NM_000383.4(AIRE):c.1384G>A (p.Gly462Ser)
NM_000383.4(AIRE):c.1384G>C (p.Gly462Arg)
NM_000383.4(AIRE):c.1387A>T (p.Thr463Ser)
NM_000383.4(AIRE):c.1393C>T (p.Arg465Trp)
NM_000383.4(AIRE):c.1394G>C (p.Arg465Pro)
NM_000383.4(AIRE):c.1396C>T (p.Pro466Ser) rs1411629170
NM_000383.4(AIRE):c.1399G>A (p.Gly467Arg) rs202018301
NM_000383.4(AIRE):c.1399G>C (p.Gly467Arg) rs202018301
NM_000383.4(AIRE):c.13G>A (p.Ala5Thr)
NM_000383.4(AIRE):c.13_14delinsTT (p.Ala5Leu) rs2146375021
NM_000383.4(AIRE):c.1400+4A>C rs2040574937
NM_000383.4(AIRE):c.1400+6T>A
NM_000383.4(AIRE):c.1400G>C (p.Gly467Ala)
NM_000383.4(AIRE):c.1401-10T>G
NM_000383.4(AIRE):c.1401-5T>G
NM_000383.4(AIRE):c.1401G>T (p.Gly467=)
NM_000383.4(AIRE):c.1409T>C (p.Leu470Pro)
NM_000383.4(AIRE):c.1412G>A (p.Arg471His)
NM_000383.4(AIRE):c.1415G>A (p.Cys472Tyr)
NM_000383.4(AIRE):c.1418G>C (p.Arg473Thr) rs750662701
NM_000383.4(AIRE):c.1435G>A (p.Val479Met)
NM_000383.4(AIRE):c.1435G>T (p.Val479Leu)
NM_000383.4(AIRE):c.1438A>G (p.Thr480Ala)
NM_000383.4(AIRE):c.143_145del (p.His48del) rs1601964364
NM_000383.4(AIRE):c.1447C>A (p.Pro483Thr) rs780816581
NM_000383.4(AIRE):c.1447C>G (p.Pro483Ala)
NM_000383.4(AIRE):c.1448C>G (p.Pro483Arg) rs2146385840
NM_000383.4(AIRE):c.1451T>C (p.Val484Ala)
NM_000383.4(AIRE):c.1460T>C (p.Val487Ala)
NM_000383.4(AIRE):c.1466C>T (p.Ala489Val) rs2146385893
NM_000383.4(AIRE):c.1468C>T (p.Pro490Ser)
NM_000383.4(AIRE):c.1470_1490del (p.Ser491_Pro497del)
NM_000383.4(AIRE):c.1474C>G (p.Pro492Ala)
NM_000383.4(AIRE):c.1476C>A (p.Pro492=) rs72650679
NM_000383.4(AIRE):c.1478C>G (p.Ala493Gly)
NM_000383.4(AIRE):c.1481G>T (p.Arg494Leu) rs528762050
NM_000383.4(AIRE):c.149A>G (p.Lys50Arg)
NM_000383.4(AIRE):c.1504-818G>A rs181779633
NM_000383.4(AIRE):c.1566+15G>A rs2040609241
NM_000383.4(AIRE):c.1566+5C>T
NM_000383.4(AIRE):c.1566+6G>A
NM_000383.4(AIRE):c.1567-1G>A rs1601973101
NM_000383.4(AIRE):c.1578_1579inv (p.Gly527Ser)
NM_000383.4(AIRE):c.1588C>T (p.Gln530Ter) rs1472708073
NM_000383.4(AIRE):c.1595C>T (p.Ala532Val)
NM_000383.4(AIRE):c.1605C>A (p.Ser535Arg) rs2146389859
NM_000383.4(AIRE):c.1608G>T (p.Met536Ile)
NM_000383.4(AIRE):c.1609G>C (p.Ala537Pro)
NM_000383.4(AIRE):c.1612del (p.Arg538fs) rs1555873662
NM_000383.4(AIRE):c.1613G>A (p.Arg538His)
NM_000383.4(AIRE):c.1615C>A (p.Pro539Thr)
NM_000383.4(AIRE):c.1630C>A (p.Pro544Thr)
NM_000383.4(AIRE):c.167C>T (p.Pro56Leu) rs2040484477
NM_000383.4(AIRE):c.172G>A (p.Ala58Thr)
NM_000383.4(AIRE):c.181G>A (p.Ala61Thr)
NM_000383.4(AIRE):c.187C>A (p.Leu63Met)
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.202A>G (p.Thr68Ala)
NM_000383.4(AIRE):c.236G>C (p.Arg79Thr)
NM_000383.4(AIRE):c.238G>A (p.Val80Met)
NM_000383.4(AIRE):c.266G>A (p.Arg89His) rs762267080
NM_000383.4(AIRE):c.266G>T (p.Arg89Leu)
NM_000383.4(AIRE):c.283C>T (p.Pro95Ser)
NM_000383.4(AIRE):c.286A>C (p.Ile96Leu) rs2146375950
NM_000383.4(AIRE):c.308-18C>T
NM_000383.4(AIRE):c.308-3C>T
NM_000383.4(AIRE):c.308-6C>T
NM_000383.4(AIRE):c.310G>A (p.Val104Met)
NM_000383.4(AIRE):c.325C>G (p.Pro109Ala)
NM_000383.4(AIRE):c.326C>T (p.Pro109Leu)
NM_000383.4(AIRE):c.329G>A (p.Arg110Gln)
NM_000383.4(AIRE):c.332A>C (p.Lys111Thr)
NM_000383.4(AIRE):c.355C>A (p.Pro119Thr)
NM_000383.4(AIRE):c.416G>C (p.Arg139Pro) rs201965760
NM_000383.4(AIRE):c.41A>C (p.His14Pro)
NM_000383.4(AIRE):c.425C>T (p.Ala142Val)
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.440C>T (p.Thr147Ile)
NM_000383.4(AIRE):c.443C>T (p.Pro148Leu)
NM_000383.4(AIRE):c.461C>T (p.Pro154Leu)
NM_000383.4(AIRE):c.463+5C>A
NM_000383.4(AIRE):c.463+5C>T rs569224551
NM_000383.4(AIRE):c.463+6C>G rs2146376456
NM_000383.4(AIRE):c.467C>T (p.Ser156Phe)
NM_000383.4(AIRE):c.46_63dup (p.Thr16_Ala21dup) rs2040477781
NM_000383.4(AIRE):c.473T>C (p.Leu158Pro) rs2040495001
NM_000383.4(AIRE):c.476A>G (p.Lys159Arg)
NM_000383.4(AIRE):c.478G>A (p.Ala160Thr) rs1568926733
NM_000383.4(AIRE):c.481_486del (p.Lys161_Pro162del)
NM_000383.4(AIRE):c.488C>T (p.Pro163Leu)
NM_000383.4(AIRE):c.491A>G (p.Lys164Arg)
NM_000383.4(AIRE):c.494A>G (p.Lys165Arg)
NM_000383.4(AIRE):c.507C>G (p.Ser169Arg)
NM_000383.4(AIRE):c.508G>A (p.Ala170Thr)
NM_000383.4(AIRE):c.520C>G (p.Arg174Gly) rs752687905
NM_000383.4(AIRE):c.524T>C (p.Leu175Pro) rs972262344
NM_000383.4(AIRE):c.527C>T (p.Pro176Leu) rs375658223
NM_000383.4(AIRE):c.537C>T (p.Asn179=)
NM_000383.4(AIRE):c.539_540delinsAT (p.Gly180Asp) rs2146377706
NM_000383.4(AIRE):c.545A>C (p.Gln182Pro) rs2040502920
NM_000383.4(AIRE):c.550A>G (p.Met184Val) rs2146377723
NM_000383.4(AIRE):c.551T>C (p.Met184Thr)
NM_000383.4(AIRE):c.55G>A (p.Ala19Thr) rs1555871798
NM_000383.4(AIRE):c.580A>G (p.Met194Val)
NM_000383.4(AIRE):c.581T>C (p.Met194Thr) rs1351412367
NM_000383.4(AIRE):c.616G>A (p.Val206Met)
NM_000383.4(AIRE):c.619G>A (p.Glu207Lys)
NM_000383.4(AIRE):c.637C>G (p.Gln213Glu) rs1029475010
NM_000383.4(AIRE):c.640G>A (p.Val214Met) rs369232026
NM_000383.4(AIRE):c.652+6C>T
NM_000383.4(AIRE):c.680_681delinsAT (p.Gly227Asp) rs2146379169
NM_000383.4(AIRE):c.68A>G (p.Asp23Gly) rs2040478254
NM_000383.4(AIRE):c.712G>C (p.Asp238His)
NM_000383.4(AIRE):c.713A>C (p.Asp238Ala)
NM_000383.4(AIRE):c.716C>A (p.Ser239Tyr) rs2146379236
NM_000383.4(AIRE):c.722G>T (p.Ser241Ile)
NM_000383.4(AIRE):c.727A>G (p.Lys243Glu) rs2040517102
NM_000383.4(AIRE):c.733A>G (p.Lys245Glu)
NM_000383.4(AIRE):c.734A>G (p.Lys245Arg)
NM_000383.4(AIRE):c.739C>T (p.Arg247Cys)
NM_000383.4(AIRE):c.742A>G (p.Ser248Gly)
NM_000383.4(AIRE):c.766G>A (p.Val256Ile) rs753558091
NM_000383.4(AIRE):c.773C>G (p.Ala258Gly) rs1388835954
NM_000383.4(AIRE):c.785A>G (p.Gln262Arg) rs2040517979
NM_000383.4(AIRE):c.816G>T (p.Arg272Ser) rs1568927979
NM_000383.4(AIRE):c.827A>G (p.Gln276Arg)
NM_000383.4(AIRE):c.831C>T (p.Gly277=) rs1180944731
NM_000383.4(AIRE):c.850G>A (p.Ala284Thr) rs1311252316
NM_000383.4(AIRE):c.851C>G (p.Ala284Gly)
NM_000383.4(AIRE):c.865C>A (p.Pro289Thr)
NM_000383.4(AIRE):c.889G>A (p.Asp297Asn) rs2040534355
NM_000383.4(AIRE):c.899C>A (p.Ala300Asp) rs868756561
NM_000383.4(AIRE):c.899C>T (p.Ala300Val) rs868756561
NM_000383.4(AIRE):c.901G>C (p.Val301Leu)
NM_000383.4(AIRE):c.907C>T (p.Arg303Trp)
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000383.4(AIRE):c.925A>G (p.Ile309Val) rs936714310
NM_000383.4(AIRE):c.946C>G (p.Arg316Gly)
NM_000383.4(AIRE):c.946C>T (p.Arg316Trp)
NM_000383.4(AIRE):c.985G>A (p.Glu329Lys)
NM_000383.4(AIRE):c.996-14G>A
NM_000383.4(AIRE):c.999G>T (p.Gly333=) rs1445602810

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