List of variants studied for Polyglandular autoimmune syndrome, type 1 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.99T>C (p.Ala33=)	rs3746964	0.18036
NM_000383.4(AIRE):c.1203T>C (p.Pro401=)	rs61737072	0.05045
NM_000383.4(AIRE):c.652+14C>T	rs41277546	0.01242
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)	rs34397615	0.01042
NM_000383.4(AIRE):c.1279-18C>T	rs72650678	0.00839
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_000383.4(AIRE):c.798+1G>A	rs138489664	0.00006
NM_000101.4(CYBA):c.371C>T (p.Ala124Val)	rs179363894	0.00003
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg)	rs179363880	0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)	rs140630532	0.00002
NM_000383.4(AIRE):c.463+2T>C	rs786204478	0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)	rs193922418	0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)	rs179363886	0.00001
NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs)	rs2146375213
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)	rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs)	rs764878471
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter)
NM_000383.4(AIRE):c.1404G>A (p.Thr468=)	rs7281600
NM_000383.4(AIRE):c.1490del (p.Pro497fs)	rs750764323
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs)	rs886041124
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)	rs121434256
NM_000383.4(AIRE):c.47C>G (p.Thr16Arg)
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675
NM_000383.4(AIRE):c.995+3_995+5delinsTAT	rs2040536458

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