ClinVar Miner

List of variants in gene AIRE reported as pathogenic for adrenal gland disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NC_000021.8:g.(?_45705870)_(45717630_?)del
NM_000383.4(AIRE):c.1096-1G>A rs780906602
NM_000383.4(AIRE):c.1103dup (p.Leu370fs) rs387906293
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672
NM_000383.4(AIRE):c.1193del (p.Pro398fs) rs1555872988
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter)
NM_000383.4(AIRE):c.132+1_132+3delinsCT rs886041293
NM_000383.4(AIRE):c.1513del (p.Ala505fs) rs387906294
NM_000383.4(AIRE):c.1567-2A>G rs1555873650
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer)
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880
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.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.469C>T (p.Gln157Ter) rs1488613451
NM_000383.4(AIRE):c.489dup (p.Lys164fs)
NM_000383.4(AIRE):c.682G>T (p.Gly228Trp) rs121434257
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254
NM_000383.4(AIRE):c.931del (p.Cys311fs) rs1555872755
NM_000383.4(AIRE):c.958del (p.Leu320fs) rs1568928525
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675

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