List of variants reported as likely pathogenic for Polyglandular autoimmune syndrome, type 1 by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.652+1G>T	rs199612115	0.00004
NM_000383.4(AIRE):c.1406del (p.Gly469fs)	rs2146385757
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.510_522del (p.Glu171fs)	rs940485051

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