List of variants in gene AIRE reported as likely pathogenic by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
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.1638A>T (p.Ter546Cys)	rs386833673	0.00001
NM_000383.4(AIRE):c.1A>G (p.Met1Val)	rs121434258	0.00001
NM_000383.4(AIRE):c.463+2T>C	rs786204478	0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)	rs179363886	0.00001
NM_000383.4(AIRE):c.1002del (p.Trp335fs)	rs769305771
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.1209_1213dup (p.Pro405fs)	rs1555872997
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)	rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs)	rs764878471
NM_000383.4(AIRE):c.1278+1del	rs996389327
NM_000383.4(AIRE):c.1279-2A>G	rs1555873087
NM_000383.4(AIRE):c.1470dup (p.Ser491fs)	rs1555873248
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs)	rs1057517072
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter)	rs1057516272
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.255C>A (p.Tyr85Ter)	rs1057516225
NM_000383.4(AIRE):c.260del (p.Leu87fs)	rs1057517428
NM_000383.4(AIRE):c.319_321delinsTG (p.Ser107fs)	rs1555871928
NM_000383.4(AIRE):c.328del (p.Arg110fs)	rs1162316051
NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs)	rs1057516314
NM_000383.4(AIRE):c.464-2A>T	rs1032171597
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.652+2T>C	rs1555872272
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.977del (p.Pro326fs)	rs1057517011

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