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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 109

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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.1566+2T>A	rs1057516985	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.1566+2dup	rs1057516811
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.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.47C>G (p.Thr16Arg)
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.93_94insT (p.Leu32fs)
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

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