ClinVar Miner

List of variants in gene AIRE studied for adrenal gland disease

Included ClinVar conditions (124):
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Gene type:
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Total variants: 169
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HGVS dbSNP
NC_000021.8:g.(?_45705870)_(45717630_?)del
NC_000021.8:g.(?_45713652)_(45717630_?)dup
NM_000383.3(AIRE):c.-653_-649dup rs1555871683
NM_000383.3(AIRE):c.-656_-655insCCC rs1016179869
NM_000383.3(AIRE):c.1278+1delG rs996389327
NM_000383.4(AIRE):c.-24_1del (p.Met1fs) rs1555871766
NM_000383.4(AIRE):c.1002del (p.Trp335fs) rs769305771
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.1063C>A (p.Pro355Thr) rs1405678537
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372
NM_000383.4(AIRE):c.1065_1079del (p.Arg356_Pro360del) rs1555872876
NM_000383.4(AIRE):c.1066dup (p.Arg356fs) rs1555872879
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln)
NM_000383.4(AIRE):c.1078_1089del (p.Pro360_Glu363del) rs1555872881
NM_000383.4(AIRE):c.1083C>G (p.Pro361=) rs201010030
NM_000383.4(AIRE):c.1083C>T (p.Pro361=) rs201010030
NM_000383.4(AIRE):c.1084G>T (p.Val362Leu) rs763954225
NM_000383.4(AIRE):c.1084del (p.Val362fs) rs1057517254
NM_000383.4(AIRE):c.1095+1G>A rs1022025101
NM_000383.4(AIRE):c.1095+23_1095+64del rs1037154559
NM_000383.4(AIRE):c.1095+2T>C
NM_000383.4(AIRE):c.1096-1G>A rs780906602
NM_000383.4(AIRE):c.1096-9G>C rs113512196
NM_000383.4(AIRE):c.10G>A (p.Asp4Asn)
NM_000383.4(AIRE):c.1103dup (p.Leu370fs) rs387906293
NM_000383.4(AIRE):c.1116_1117del (p.Ala373fs) rs1057516411
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672
NM_000383.4(AIRE):c.1168A>G (p.Thr390Ala)
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met)
NM_000383.4(AIRE):c.1193del (p.Pro398fs) rs1555872988
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072
NM_000383.4(AIRE):c.1207G>A (p.Ala403Thr) rs543891914
NM_000383.4(AIRE):c.1209_1213dup (p.Pro405fs) rs1555872997
NM_000383.4(AIRE):c.1215G>A (p.Pro405=) rs72650676
NM_000383.4(AIRE):c.1243C>T (p.His415Tyr)
NM_000383.4(AIRE):c.1244A>G (p.His415Arg)
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter)
NM_000383.4(AIRE):c.1279-18C>T rs72650678
NM_000383.4(AIRE):c.1279-2A>G rs1555873087
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg) rs373993732
NM_000383.4(AIRE):c.132+1_132+3delinsCT rs886041293
NM_000383.4(AIRE):c.1327G>A (p.Val443Met)
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln)
NM_000383.4(AIRE):c.1336T>G (p.Cys446Gly) rs1555873106
NM_000383.4(AIRE):c.1344C>T (p.His448=) rs201131119
NM_000383.4(AIRE):c.1373A>G (p.His458Arg)
NM_000383.4(AIRE):c.137C>T (p.Thr46Met) rs758870962
NM_000383.4(AIRE):c.1399G>A (p.Gly467Arg)
NM_000383.4(AIRE):c.1403C>T (p.Thr468Met)
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>C (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920
NM_000383.4(AIRE):c.143_145del (p.His48del)
NM_000383.4(AIRE):c.1450G>A (p.Val484Met) rs367966318
NM_000383.4(AIRE):c.1454A>T (p.Glu485Val)
NM_000383.4(AIRE):c.1470dup (p.Ser491fs) rs1555873248
NM_000383.4(AIRE):c.1476C>T (p.Pro492=) rs72650679
NM_000383.4(AIRE):c.1476_1479CGCC[1] (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr) rs561652010
NM_000383.4(AIRE):c.1480C>T (p.Arg494Cys) rs1465595959
NM_000383.4(AIRE):c.1483C>T (p.Leu495=) rs376909088
NM_000383.4(AIRE):c.1490del (p.Pro497fs) rs750764323
NM_000383.4(AIRE):c.1505A>T (p.Asp502Val)
NM_000383.4(AIRE):c.1513del (p.Ala505fs) rs387906294
NM_000383.4(AIRE):c.1563C>T (p.Ser521=)
NM_000383.4(AIRE):c.1566+2T>A rs1057516985
NM_000383.4(AIRE):c.1566+2dup rs1057516811
NM_000383.4(AIRE):c.1566+8C>T rs72650680
NM_000383.4(AIRE):c.1567-18C>T rs372108131
NM_000383.4(AIRE):c.1567-1G>A
NM_000383.4(AIRE):c.1567-2A>G rs1555873650
NM_000383.4(AIRE):c.1567-5C>T rs192215705
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.4(AIRE):c.1588C>T (p.Gln530Ter) rs1472708073
NM_000383.4(AIRE):c.1612del (p.Arg538fs) rs1555873662
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser) rs1568932096
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser)
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115
NM_000383.4(AIRE):c.1A>G (p.Met1Val) rs121434258
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000383.4(AIRE):c.20_24del (p.Leu7fs) rs1555871777
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer)
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn) rs146810389
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880
NM_000383.4(AIRE):c.233G>A (p.Trp78Ter) rs1057516499
NM_000383.4(AIRE):c.239T>G (p.Val80Gly) rs267606642
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) rs121434255
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.255C>A (p.Tyr85Ter) rs1057516225
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.268T>C (p.Tyr90His) rs1555871902
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532
NM_000383.4(AIRE):c.319_321delinsTG (p.Ser107fs) rs1555871928
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu)
NM_000383.4(AIRE):c.348G>A (p.Pro116=) rs74162060
NM_000383.4(AIRE):c.352G>A (p.Val118Ile)
NM_000383.4(AIRE):c.353T>A (p.Val118Asp)
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.426G>A (p.Ala142=) rs748305262
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs) rs1057516314
NM_000383.4(AIRE):c.463+2T>C rs786204478
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418
NM_000383.4(AIRE):c.464-2A>T rs1032171597
NM_000383.4(AIRE):c.469C>T (p.Gln157Ter) rs1488613451
NM_000383.4(AIRE):c.478G>A (p.Ala160Thr) rs1568926733
NM_000383.4(AIRE):c.485C>T (p.Pro162Leu)
NM_000383.4(AIRE):c.489dup (p.Lys164fs)
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214
NM_000383.4(AIRE):c.512_516dup (p.Gln173fs) rs1555872060
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.520C>T (p.Arg174Cys)
NM_000383.4(AIRE):c.538+3G>A
NM_000383.4(AIRE):c.538+42del rs3214074
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg)
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046
NM_000383.4(AIRE):c.55G>A (p.Ala19Thr) rs1555871798
NM_000383.4(AIRE):c.560C>T (p.Ser187Leu)
NM_000383.4(AIRE):c.581T>C (p.Met194Thr) rs1351412367
NM_000383.4(AIRE):c.590G>C (p.Gly197Ala) rs1185406745
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu)
NM_000383.4(AIRE):c.600G>A (p.Pro200=) rs754331960
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.652+14C>T rs41277546
NM_000383.4(AIRE):c.652+1G>T rs199612115
NM_000383.4(AIRE):c.652+2T>C rs1555872272
NM_000383.4(AIRE):c.653-5C>T rs771182213
NM_000383.4(AIRE):c.653-9T>A
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser) rs139620961
NM_000383.4(AIRE):c.659C>T (p.Ser220Phe)
NM_000383.4(AIRE):c.682G>T (p.Gly228Trp) rs121434257
NM_000383.4(AIRE):c.717C>T (p.Ser239=) rs149130190
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615
NM_000383.4(AIRE):c.766G>A (p.Val256Ile)
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254
NM_000383.4(AIRE):c.794C>T (p.Ala265Val)
NM_000383.4(AIRE):c.798+1G>A rs138489664
NM_000383.4(AIRE):c.798+1G>C rs138489664
NM_000383.4(AIRE):c.798+1G>T rs138489664
NM_000383.4(AIRE):c.798+5G>A rs1490186498
NM_000383.4(AIRE):c.798C>T (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.809_810del (p.Glu270fs) rs1057517268
NM_000383.4(AIRE):c.816G>T (p.Arg272Ser) rs1568927979
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878
NM_000383.4(AIRE):c.860G>A (p.Ser287Asn)
NM_000383.4(AIRE):c.880-451G>A rs267606153
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys) rs763636007
NM_000383.4(AIRE):c.925A>G (p.Ile309Val) rs936714310
NM_000383.4(AIRE):c.931del (p.Cys311fs) rs1555872755
NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) rs386833674
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln)
NM_000383.4(AIRE):c.958del (p.Leu320fs) rs1568928525
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.977del (p.Pro326fs) rs1057517011
NM_000383.4(AIRE):c.983G>A (p.Arg328Gln)
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964

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