ClinVar Miner

List of variants reported as likely pathogenic for Polyglandular autoimmune syndrome, type 1 by Genomics England Pilot Project, Genomics England

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675

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