ClinVar Miner

List of variants studied for Polyglandular autoimmune syndrome, type 1 by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673 0.00001
NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) rs386833674
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675

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