List of variants reported as pathogenic for autoimmune polyendocrinopathy by Invitae

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

Total variants: 110

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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.798+1G>A	rs138489664	0.00006
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.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.(?_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_000021.9:g.(?_44285987)_(44297747_?)del
NC_000021.9:g.44288345_44288346del
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.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.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.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.1522G>T (p.Glu508Ter)
NM_000383.4(AIRE):c.1540del (p.Asp514fs)	rs2146388096
NM_000383.4(AIRE):c.1566+1G>C
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter)	rs1057516272
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.21_43dup (p.Arg15delinsHisAlaGlyPheTer)	rs1601963938
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>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>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.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

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