ClinVar Miner

List of variants reported as likely pathogenic for Polyglandular autoimmune syndrome, type 1 by Myriad Genetics, Inc.

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.637C>T (p.Gln213Ter) rs1029475010 0.00001
NM_000383.4(AIRE):c.1034_1036delinsA (p.Val345fs)
NM_000383.4(AIRE):c.1121del (p.Gly374fs)
NM_000383.4(AIRE):c.1122_1123insCTGTCTCTTATACACATCT (p.Glu375delinsLeuSerLeuIleHisIleTer)
NM_000383.4(AIRE):c.1257T>A (p.Cys419Ter) rs2040561421
NM_000383.4(AIRE):c.481A>T (p.Lys161Ter) rs2040495130
NM_000383.4(AIRE):c.487_489delinsA (p.Pro163fs)
NM_000383.4(AIRE):c.496_497insA (p.Pro166fs)
NM_000383.4(AIRE):c.619G>T (p.Glu207Ter)
NM_000383.4(AIRE):c.61del (p.Ala21fs)
NM_000383.4(AIRE):c.685del (p.Glu229fs)
NM_000383.4(AIRE):c.708_709del (p.Phe236fs)
NM_000383.4(AIRE):c.775A>T (p.Lys259Ter)
NM_000383.4(AIRE):c.868del (p.Gln290fs) rs2146379725
NM_000383.4(AIRE):c.880A>T (p.Lys294Ter) rs2040534254

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