List of variants reported as pathogenic for Polyglandular autoimmune syndrome, type 1 by Counsyl

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg)	rs179363880	0.00002
NM_000383.4(AIRE):c.1096-1G>A	rs780906602	0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs)	rs386833672	0.00001
NM_000383.4(AIRE):c.1A>T (p.Met1Leu)	rs121434258	0.00001
NM_000383.4(AIRE):c.1193del (p.Pro398fs)	rs1555872988
NM_000383.4(AIRE):c.1567-2A>G	rs1555873650
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)	rs121434256
NM_000383.4(AIRE):c.931del (p.Cys311fs)	rs1555872755

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