List of variants reported as 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.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_000383.4(AIRE):c.2T>A (p.Met1Lys)	rs2146374989
NM_000383.4(AIRE):c.47C>T (p.Thr16Met)	rs179363877
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675

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