ClinVar Miner

List of variants reported as likely pathogenic for Polyglandular autoimmune syndrome, type 1 by National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.131A>C (p.Gln44Pro)
NM_000383.4(AIRE):c.242T>C (p.Leu81Pro)
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg)	rs179363884

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