ClinVar Miner

List of variants in gene AIRE reported as not provided for Polyglandular autoimmune syndrome, type 1

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln) rs753878067 0.00002
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675

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