ClinVar Miner

List of variants in gene AIRE studied for not provided

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Gene type:
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Total variants: 149
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HGVS dbSNP gnomAD frequency
NC_000021.9:g.44285777T>C rs751032 0.90117
NM_000383.4(AIRE):c.1566+204T>C rs2075878 0.49539
NM_000383.4(AIRE):c.995+109A>G rs1078480 0.49492
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_000383.4(AIRE):c.1400+227C>T rs111411199 0.39794
NM_000383.4(AIRE):c.879+459C>G rs941405 0.36738
NM_000383.4(AIRE):c.539-207T>A rs878080 0.33503
NM_000383.4(AIRE):c.1567-127G>A rs3746965 0.32654
NM_000383.4(AIRE):c.1096-288G>A rs933150 0.30258
NM_000383.4(AIRE):c.879+156T>C rs1003854 0.22536
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_000383.4(AIRE):c.653-201C>T rs2516560 0.20846
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_000383.4(AIRE):c.1401-28G>C rs1800526 0.17294
NM_000383.4(AIRE):c.539-252T>C rs2073609 0.13549
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_000383.4(AIRE):c.1567-292G>A rs9974092 0.10424
NM_000383.4(AIRE):c.880-450G>C rs2073610 0.07765
NM_000383.4(AIRE):c.1503+134T>C rs41296229 0.06737
NM_000383.4(AIRE):c.653-145C>T rs41277548 0.05710
NM_000383.4(AIRE):c.133-91C>T rs73907152 0.05521
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072 0.05045
NM_000383.4(AIRE):c.879+101G>A rs2075877 0.04640
NM_000383.4(AIRE):c.880-297G>A rs2073611 0.03950
NC_000021.9:g.44285603G>C rs58274041 0.03688
NM_000383.4(AIRE):c.995+139G>T rs114771343 0.03311
NM_000383.4(AIRE):c.308-123T>C rs62220372 0.03075
NM_000383.4(AIRE):c.653-302G>A rs73907156 0.03020
NM_000383.4(AIRE):c.-77C>A rs150767556 0.02842
NM_000383.4(AIRE):c.1278+279G>A rs11908988 0.02292
NM_000383.4(AIRE):c.1096-9G>C rs113512196 0.01593
NM_000383.4(AIRE):c.538+51G>T rs62220373 0.01485
NM_000383.4(AIRE):c.652+14C>T rs41277546 0.01242
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214 0.00580
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_000383.4(AIRE):c.1566+8C>T rs72650680 0.00206
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372 0.00188
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437 0.00176
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_000383.4(AIRE):c.717C>T (p.Ser239=) rs149130190 0.00110
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000383.4(AIRE):c.789C>T (p.Gly263=) rs138066507 0.00099
NM_000383.4(AIRE):c.901G>A (p.Val301Met) rs150634562 0.00092
NM_000383.4(AIRE):c.1215G>A (p.Pro405=) rs72650676 0.00078
NM_000383.4(AIRE):c.1383C>T (p.Ala461=) rs147485628 0.00066
NM_000383.4(AIRE):c.348G>A (p.Pro116=) rs74162060 0.00066
NM_000383.4(AIRE):c.1476C>T (p.Pro492=) rs72650679 0.00054
NM_000383.4(AIRE):c.1344C>T (p.His448=) rs201131119 0.00024
NM_000383.4(AIRE):c.1483C>T (p.Leu495=) rs376909088 0.00024
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946 0.00022
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg) rs148012328 0.00022
NM_000383.4(AIRE):c.912C>T (p.Asp304=) rs149769247 0.00022
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp) rs376901046 0.00016
NM_000383.4(AIRE):c.936C>T (p.Asp312=) rs147889221 0.00015
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr) rs561652010 0.00014
NM_000383.4(AIRE):c.354C>G (p.Val118=) rs528667089 0.00011
NM_000383.4(AIRE):c.372G>A (p.Pro124=) rs775117249 0.00011
NM_000383.4(AIRE):c.705G>A (p.Lys235=) rs145255118 0.00011
NM_000383.4(AIRE):c.1115C>T (p.Ser372Leu) rs202237214 0.00010
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417 0.00010
NM_000383.4(AIRE):c.927C>G (p.Ile309Met) rs74162062 0.00010
NM_000383.4(AIRE):c.426G>A (p.Ala142=) rs748305262 0.00009
NM_000383.4(AIRE):c.615C>T (p.Ala205=) rs143784684 0.00009
NM_000383.4(AIRE):c.564C>G (p.Val188=) rs201650973 0.00007
NM_000383.4(AIRE):c.1103C>T (p.Pro368Leu) rs552129156 0.00006
NM_000383.4(AIRE):c.1398C>T (p.Pro466=) rs1402673356 0.00004
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu) rs151049459 0.00004
NM_000383.4(AIRE):c.531C>T (p.Leu177=) rs538568691 0.00004
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser) rs139620961 0.00004
NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr) rs373383785 0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000383.4(AIRE):c.1095+5G>T rs1057522692 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000383.4(AIRE):c.1345T>C (p.Cys449Arg) rs957681340 0.00001
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.841G>A (p.Ala281Thr) rs778148534 0.00001
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys) rs763636007 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 0.00001
GRCh37/hg19 21q22.3(chr21:45696025-45709153)x3
NM_000383.4(AIRE):c.*79C>G rs72650681
NM_000383.4(AIRE):c.-41C>A rs2146374912
NM_000383.4(AIRE):c.1095+78del rs5844181
NM_000383.4(AIRE):c.1144G>A (p.Gly382Arg) rs2146383336
NM_000383.4(AIRE):c.1191G>A (p.Leu397=) rs572680101
NM_000383.4(AIRE):c.1214_1215delinsT (p.Pro405fs) rs1601969230
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.132+1_132+3delinsCT rs886041293
NM_000383.4(AIRE):c.1365G>A (p.Trp455Ter) rs1555873118
NM_000383.4(AIRE):c.1393C>T (p.Arg465Trp)
NM_000383.4(AIRE):c.1400+83A>C rs115787564
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1503+134T>A rs41296229
NM_000383.4(AIRE):c.1503+236G>A rs73368445
NM_000383.4(AIRE):c.1504-131G>A rs28408186
NM_000383.4(AIRE):c.1504-275G>A rs760427
NM_000383.4(AIRE):c.1566+219dup rs60821379
NM_000383.4(AIRE):c.1566+220G>A rs56328754
NM_000383.4(AIRE):c.1566+8del rs756443807
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser) rs1568932096
NM_000383.4(AIRE):c.199_202delinsTGG (p.Leu67fs) rs886041123
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer) rs1601963938
NM_000383.4(AIRE):c.230T>C (p.Phe77Ser) rs179363887
NM_000383.4(AIRE):c.232T>A (p.Trp78Arg) rs179363880
NM_000383.4(AIRE):c.238G>T (p.Val80Leu) rs179363881
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys) rs179363883
NM_000383.4(AIRE):c.26G>C (p.Arg9Pro) rs1057517878
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.297C>T (p.Ser99=)
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.34A>G (p.Arg12Gly) rs1131691636
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.440C>T (p.Thr147Ile)
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.510_522dup (p.Leu175fs) rs940485051
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.545A>C (p.Gln182Pro) rs2040502920
NM_000383.4(AIRE):c.616G>A (p.Val206Met)
NM_000383.4(AIRE):c.652+14C>G rs41277546
NM_000383.4(AIRE):c.799-17G>A rs72650675
NM_000383.4(AIRE):c.823del (p.Gln275fs) rs764819068
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000383.4(AIRE):c.838C>T (p.Pro280Ser)
NM_000383.4(AIRE):c.865C>A (p.Pro289Thr)
NM_000383.4(AIRE):c.86T>C (p.Leu29Pro) rs179363879
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.962C>A (p.Ala321Asp)
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.974C>T (p.Pro325Leu)
NM_000383.4(AIRE):c.977C>A (p.Pro326Gln) rs179363885
NM_000383.4(AIRE):c.979C>T (p.Leu327Phe)
NM_000383.4(AIRE):c.992C>T (p.Pro331Leu)

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