ClinVar Miner

List of variants reported as pathogenic for Polyglandular autoimmune syndrome, type 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 132
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.798+1G>A rs138489664 0.00006
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) rs179363894 0.00003
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.607C>T (p.Arg203Ter) rs755490967 0.00002
NM_000383.4(AIRE):c.1096-1G>A rs780906602 0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000383.4(AIRE):c.1566+2T>A rs1057516985 0.00001
NM_000383.4(AIRE):c.1A>G (p.Met1Val) rs121434258 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.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.789del (p.Ala264fs) rs387906295 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
NC_000021.8:g.(?_45705869)_(45711113_?)del
NC_000021.8:g.(?_45705870)_(45707494_?)del
NC_000021.8:g.(?_45705870)_(45711113_?)del
NC_000021.8:g.(?_45705880)_(45707026_?)del
NC_000021.8:g.(?_45705880)_(45711103_?)del
NC_000021.8:g.(?_45709640)_(45714378_?)del
NC_000021.8:g.(?_45716246)_(45717610_?)del
NC_000021.9:g.(?_44285987)_(44297747_?)del
NC_000021.9:g.44288345_44288346del
NM_000383.3:c.995+(3_5)delGAGinsTAT
NM_000383.4(AIRE):c.-17_27del (p.Met1fs) rs2040477031
NM_000383.4(AIRE):c.1045C>T (p.Gln349Ter)
NM_000383.4(AIRE):c.1060G>T (p.Glu354Ter)
NM_000383.4(AIRE):c.1066del (p.Arg356fs)
NM_000383.4(AIRE):c.1066dup (p.Arg356fs) rs1555872879
NM_000383.4(AIRE):c.1072C>T (p.Gln358Ter)
NM_000383.4(AIRE):c.107del (p.Asp36fs)
NM_000383.4(AIRE):c.1084del (p.Val362fs) rs1057517254
NM_000383.4(AIRE):c.1095+1G>C
NM_000383.4(AIRE):c.1103dup (p.Leu370fs) rs387906293
NM_000383.4(AIRE):c.1143_1144del (p.Glu383fs) rs746933095
NM_000383.4(AIRE):c.117del (p.Glu40fs) rs1248788128
NM_000383.4(AIRE):c.1182C>A (p.Tyr394Ter) rs1482020075
NM_000383.4(AIRE):c.1192_1196dup (p.Pro400fs) rs2146383463
NM_000383.4(AIRE):c.1193del (p.Pro398fs) rs1555872988
NM_000383.4(AIRE):c.1214del (p.Pro405fs) rs2040560523
NM_000383.4(AIRE):c.1233del (p.Ser412fs) rs2146383573
NM_000383.4(AIRE):c.1235del (p.Ser412fs)
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1250_1251insTCTCCTCGGCCCTGCACCCCCT (p.Cys419fs) rs2146383561
NM_000383.4(AIRE):c.1259_1260del (p.Val420fs) rs759281545
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1271del (p.Gly424fs)
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter) rs1601969308
NM_000383.4(AIRE):c.1302C>A (p.Cys434Ter)
NM_000383.4(AIRE):c.1316_1334del (p.Asp439fs)
NM_000383.4(AIRE):c.132+1_132+3delinsCT rs886041293
NM_000383.4(AIRE):c.133-126_539-180del
NM_000383.4(AIRE):c.1364G>A (p.Trp455Ter)
NM_000383.4(AIRE):c.1412del (p.Arg471fs)
NM_000383.4(AIRE):c.1427C>G (p.Ser476Ter)
NM_000383.4(AIRE):c.1429G>T (p.Gly477Ter) rs866898746
NM_000383.4(AIRE):c.1449_1476del (p.Val484fs)
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1497del (p.Ala500fs)
NM_000383.4(AIRE):c.14_15del (p.Ala5fs) rs2146375012
NM_000383.4(AIRE):c.1503+1G>T rs1156582406
NM_000383.4(AIRE):c.1513del (p.Ala505fs) rs387906294
NM_000383.4(AIRE):c.1522G>T (p.Glu508Ter)
NM_000383.4(AIRE):c.1540del (p.Asp514fs) rs2146388096
NM_000383.4(AIRE):c.1549G>T (p.Glu517Ter) rs2040608439
NM_000383.4(AIRE):c.1566+1G>C
NM_000383.4(AIRE):c.1567-2A>G rs1555873650
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser) rs1568932096
NM_000383.4(AIRE):c.190_226del (p.Ser64fs)
NM_000383.4(AIRE):c.193_197dup (p.Leu67fs) rs2146375818
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.205C>T (p.Gln69Ter) rs2146375836
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000383.4(AIRE):c.20_115del (p.Leu7_Val38del)
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer) rs1601963938
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.253_255del (p.Tyr85del) rs2146375885
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.262G>T (p.Glu88Ter)
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys) rs179363883
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.280C>T (p.Gln94Ter)
NM_000383.4(AIRE):c.2T>A (p.Met1Lys) rs2146374989
NM_000383.4(AIRE):c.2T>C (p.Met1Thr)
NM_000383.4(AIRE):c.2T>G (p.Met1Arg) rs2146374989
NM_000383.4(AIRE):c.322C>T (p.Gln108Ter) rs1472808103
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.340A>T (p.Lys114Ter) rs2146376221
NM_000383.4(AIRE):c.347del (p.Pro116fs) rs1568926472
NM_000383.4(AIRE):c.349del (p.Ala117fs)
NM_000383.4(AIRE):c.36del (p.Arg12fs) rs2146375064
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.449del (p.Gly150fs)
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.469C>T (p.Gln157Ter) rs1488613451
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.489del (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.489dup (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.508_517dup (p.Gln173fs) rs1179261094
NM_000383.4(AIRE):c.510_522del (p.Glu171fs) rs940485051
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.546_547dup (p.Thr183fs)
NM_000383.4(AIRE):c.560C>G (p.Ser187Ter) rs143952576
NM_000383.4(AIRE):c.599dup (p.Ala202fs) rs1213326298
NM_000383.4(AIRE):c.709G>T (p.Glu237Ter)
NM_000383.4(AIRE):c.747del (p.Ser249fs) rs2146379302
NM_000383.4(AIRE):c.768del (p.Arg257fs)
NM_000383.4(AIRE):c.784C>T (p.Gln262Ter) rs2146379356
NM_000383.4(AIRE):c.798dup (p.Gly267fs)
NM_000383.4(AIRE):c.823del (p.Gln275fs) rs764819068
NM_000383.4(AIRE):c.868C>T (p.Gln290Ter)
NM_000383.4(AIRE):c.868del (p.Gln290fs) rs2146379725
NM_000383.4(AIRE):c.86T>C (p.Leu29Pro) rs179363879
NM_000383.4(AIRE):c.878del (p.Gln293fs)
NM_000383.4(AIRE):c.931del (p.Cys311fs) rs1555872755
NM_000383.4(AIRE):c.933T>A (p.Cys311Ter)
NM_000383.4(AIRE):c.958del (p.Leu320fs) rs1568928525
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.969_975del (p.Ser324fs) rs2146381019
NM_000383.4(AIRE):c.995+3_995+5delinsTAT rs2040536458

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.