ClinVar Miner

List of variants reported as uncertain significance for Polyglandular autoimmune syndrome, type 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu) rs368331265 0.00011
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln) rs202027254 0.00004
NM_000383.4(AIRE):c.116C>T (p.Pro39Leu)
NM_000383.4(AIRE):c.1435G>T (p.Val479Leu)
NM_000383.4(AIRE):c.172G>A (p.Ala58Thr)

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