ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.1566+2T>A rs1057516985 0.00001
NM_000383.4(AIRE):c.1513del (p.Ala505fs) rs387906294
NM_000383.4(AIRE):c.1522G>T (p.Glu508Ter)
NM_000383.4(AIRE):c.1540del (p.Asp514fs) rs2146388096
NM_000383.4(AIRE):c.1549G>T (p.Glu517Ter) rs2040608439
NM_000383.4(AIRE):c.1566+1G>C

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