ClinVar Miner

List of variants in gene combination AIRE, LOC130066813 reported as likely pathogenic for Polyglandular autoimmune syndrome, type 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.1566+2T>A	rs1057516985	0.00001
NM_000383.4(AIRE):c.1566+2dup	rs1057516811

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