ClinVar Miner

List of variants studied for Polyglandular autoimmune syndrome, type 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 8
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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.274C>T (p.Arg92Trp) rs140630532 0.00002
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)
NM_000383.4(AIRE):c.652+2T>C rs1555872272
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675

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