ClinVar Miner

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

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Total variants: 46
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HGVS dbSNP
NM_000383.3(AIRE):c.1002delC (p.Trp335Glyfs) rs769305771
NM_000383.3(AIRE):c.1066dup (p.Arg356Profs) rs1555872879
NM_000383.3(AIRE):c.1084delG (p.Val362Trpfs) rs1057517254
NM_000383.3(AIRE):c.1095+1G>A rs1022025101
NM_000383.3(AIRE):c.1116_1117delGG (p.Ala373Glyfs) rs1057516411
NM_000383.3(AIRE):c.1163_1164insA (p.Met388Ilefs) rs386833672
NM_000383.3(AIRE):c.1209_1213dup (p.Pro405Glnfs) rs1555872997
NM_000383.3(AIRE):c.1249dupC (p.Leu417Profs) rs786204567
NM_000383.3(AIRE):c.1278+1delG rs996389327
NM_000383.3(AIRE):c.1279-2A>G rs1555873087
NM_000383.3(AIRE):c.1470dup (p.Ser491Glnfs) rs1555873248
NM_000383.3(AIRE):c.1480_1483delCGCC (p.Arg494Trpfs) rs1057517072
NM_000383.3(AIRE):c.1566+2T>A rs1057516985
NM_000383.3(AIRE):c.1566+2dupT rs1057516811
NM_000383.3(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.3(AIRE):c.1616C>T (p.Pro539Leu) rs179363889
NM_000383.3(AIRE):c.1638A>T (p.Ter546Cys) rs386833673
NM_000383.3(AIRE):c.1A>G (p.Met1Val) rs121434258
NM_000383.3(AIRE):c.20_24del5 (p.Leu7Profs) rs1555871777
NM_000383.3(AIRE):c.232T>C (p.Trp78Arg) rs179363880
NM_000383.3(AIRE):c.233G>A (p.Trp78Ter) rs1057516499
NM_000383.3(AIRE):c.255C>A (p.Tyr85Ter) rs1057516225
NM_000383.3(AIRE):c.260delT (p.Leu87Argfs) rs1057517428
NM_000383.3(AIRE):c.268T>C (p.Tyr90His) rs1555871902
NM_000383.3(AIRE):c.274C>T (p.Arg92Trp) rs140630532
NM_000383.3(AIRE):c.319_321delAGCinsTG (p.Ser107Cysfs) rs1555871928
NM_000383.3(AIRE):c.328delC (p.Arg110Glyfs) rs1162316051
NM_000383.3(AIRE):c.342G>T (p.Lys114Asn) rs142788946
NM_000383.3(AIRE):c.371C>T (p.Pro124Leu) rs193922417
NM_000383.3(AIRE):c.457_458delAGinsC (p.Ser153Profs) rs1057516314
NM_000383.3(AIRE):c.463+2T>C rs786204478
NM_000383.3(AIRE):c.463G>A (p.Gly155Ser) rs193922418
NM_000383.3(AIRE):c.464-2A>T rs1032171597
NM_000383.3(AIRE):c.512_516dup (p.Gln173Serfs) rs1555872060
NM_000383.3(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.3(AIRE):c.62C>T (p.Ala21Val) rs179363886
NM_000383.3(AIRE):c.652+1G>T rs199612115
NM_000383.3(AIRE):c.652+2T>C rs1555872272
NM_000383.3(AIRE):c.798+1G>A rs138489664
NM_000383.3(AIRE):c.798+1G>C rs138489664
NM_000383.3(AIRE):c.798+1G>T rs138489664
NM_000383.3(AIRE):c.809_810delAG (p.Glu270Glyfs) rs1057517268
NM_000383.3(AIRE):c.932G>A (p.Cys311Tyr) rs386833674
NM_000383.3(AIRE):c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) rs386833675
NM_000383.3(AIRE):c.977delC (p.Pro326Argfs) rs1057517011
NM_000383.3:c.1490delC

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