List of variants studied for Polyglandular autoimmune syndrome, type 1 by OMIM

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Total variants: 10

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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.1A>T (p.Met1Leu)	rs121434258	0.00001
NM_000383.3:c.995+(3_5)delGAGinsTAT
NM_000383.4(AIRE):c.1103dup (p.Leu370fs)	rs387906293
NM_000383.4(AIRE):c.1513del (p.Ala505fs)	rs387906294
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs)	rs886041124
NM_000383.4(AIRE):c.239T>G (p.Val80Gly)	rs267606642
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu)	rs121434255
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)	rs121434256
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675

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