ClinVar Miner

List of variants studied for Polyglandular autoimmune syndrome, type 1 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.1193del (p.Pro398fs) rs1555872988
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.44G>A (p.Arg15His) rs179363876
NM_000383.4(AIRE):c.93_94insT (p.Leu32fs)

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