ClinVar Miner

List of variants in gene AIRE reported as likely pathogenic for Polyglandular autoimmune syndrome, type 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 104
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000383.4(AIRE):c.1095+2T>C rs760280615 0.00009
NM_000383.4(AIRE):c.1203_1278+28del rs1568929576 0.00008
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00004
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.1278+1G>A rs1184559866 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673 0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115 0.00001
NM_000383.4(AIRE):c.1A>G (p.Met1Val) rs121434258 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000383.4(AIRE):c.275G>A (p.Arg92Gln) rs1288735234 0.00001
NM_000383.4(AIRE):c.308-1G>C rs764588340 0.00001
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.637C>T (p.Gln213Ter) rs1029475010 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 0.00001
NM_000383.4(AIRE):c.1002del (p.Trp335fs) rs769305771
NM_000383.4(AIRE):c.1034_1036delinsA (p.Val345fs)
NM_000383.4(AIRE):c.1066dup (p.Arg356fs) rs1555872879
NM_000383.4(AIRE):c.1084del (p.Val362fs) rs1057517254
NM_000383.4(AIRE):c.1095+1G>A rs1022025101
NM_000383.4(AIRE):c.1116_1117del (p.Ala373fs) rs1057516411
NM_000383.4(AIRE):c.1121del (p.Gly374fs)
NM_000383.4(AIRE):c.1122_1123insCTGTCTCTTATACACATCT (p.Glu375delinsLeuSerLeuIleHisIleTer)
NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs) rs2146375213
NM_000383.4(AIRE):c.1209_1213dup (p.Pro405fs) rs1555872997
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1257T>A (p.Cys419Ter) rs2040561421
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter)
NM_000383.4(AIRE):c.1278+1del rs996389327
NM_000383.4(AIRE):c.1279-2A>G rs1555873087
NM_000383.4(AIRE):c.1311C>A (p.Cys437Ter)
NM_000383.4(AIRE):c.131A>C (p.Gln44Pro)
NM_000383.4(AIRE):c.132+2T>C
NM_000383.4(AIRE):c.1398dup (p.Gly467fs)
NM_000383.4(AIRE):c.1400+1G>A rs1469386000
NM_000383.4(AIRE):c.1400+2T>C
NM_000383.4(AIRE):c.1401-1G>A
NM_000383.4(AIRE):c.1406del (p.Gly469fs) rs2146385757
NM_000383.4(AIRE):c.1470dup (p.Ser491fs) rs1555873248
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1490del (p.Pro497fs) rs750764323
NM_000383.4(AIRE):c.1503+1G>A
NM_000383.4(AIRE):c.1503+1G>T rs1156582406
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly) rs747941115
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.20_24del (p.Leu7fs) rs1555871777
NM_000383.4(AIRE):c.233G>A (p.Trp78Ter) rs1057516499
NM_000383.4(AIRE):c.23G>A (p.Arg8His)
NM_000383.4(AIRE):c.242T>C (p.Leu81Pro)
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.25C>T (p.Arg9Trp) rs1942959342
NM_000383.4(AIRE):c.260T>C (p.Leu87Pro) rs2040485564
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.268T>C (p.Tyr90His) rs1555871902
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.290T>C (p.Leu97Pro) rs2146375951
NM_000383.4(AIRE):c.307+2T>G rs2146375964
NM_000383.4(AIRE):c.319_321delinsTG (p.Ser107fs) rs1555871928
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.43C>G (p.Arg15Gly) rs179363875
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.44G>A (p.Arg15His) rs179363876
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs) rs1057516314
NM_000383.4(AIRE):c.464-2A>T rs1032171597
NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)
NM_000383.4(AIRE):c.481A>T (p.Lys161Ter) rs2040495130
NM_000383.4(AIRE):c.487_489delinsA (p.Pro163fs)
NM_000383.4(AIRE):c.496_497insA (p.Pro166fs)
NM_000383.4(AIRE):c.510_522del (p.Glu171fs) rs940485051
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.539-2A>G rs2146377702
NM_000383.4(AIRE):c.54C>G (p.Ile18Met)
NM_000383.4(AIRE):c.619G>T (p.Glu207Ter)
NM_000383.4(AIRE):c.61del (p.Ala21fs)
NM_000383.4(AIRE):c.652+2T>C rs1555872272
NM_000383.4(AIRE):c.685del (p.Glu229fs)
NM_000383.4(AIRE):c.708_709del (p.Phe236fs)
NM_000383.4(AIRE):c.775A>T (p.Lys259Ter)
NM_000383.4(AIRE):c.798+1G>C rs138489664
NM_000383.4(AIRE):c.798+1G>T rs138489664
NM_000383.4(AIRE):c.809_810del (p.Glu270fs) rs1057517268
NM_000383.4(AIRE):c.868del (p.Gln290fs) rs2146379725
NM_000383.4(AIRE):c.880A>T (p.Lys294Ter) rs2040534254
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) rs386833674
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.977del (p.Pro326fs) rs1057517011
NM_000383.4(AIRE):c.995+1G>A
NM_000383.4(AIRE):c.995+1G>C
NM_000383.4(AIRE):c.996-1G>A

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.