ClinVar Miner

List of variants reported as pathogenic for Polyglandular autoimmune syndrome, type 1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105

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