ClinVar Miner

List of variants reported as likely pathogenic for Polyglandular autoimmune syndrome, type 1 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs) rs2146375213
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter)
NM_000383.4(AIRE):c.1490del (p.Pro497fs) rs750764323
NM_000383.4(AIRE):c.47C>G (p.Thr16Arg)

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