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

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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.1616C>T (p.Pro539Leu)	rs179363889	0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)	rs140630532	0.00002
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)	rs179363886	0.00001
NM_000383.4(AIRE):c.1045C>T (p.Gln349Ter)
NM_000383.4(AIRE):c.1265del (p.Pro422fs)	rs764878471
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter)	rs1601969308
NM_000383.4(AIRE):c.195G>A (p.Trp65Ter)
NM_000383.4(AIRE):c.47C>T (p.Thr16Met)	rs179363877
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675

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