ClinVar Miner

List of variants reported as likely pathogenic for Polyglandular autoimmune syndrome, type 1 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526

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