List of variants in gene AIRE reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.1578T>C (p.Asp526=)	rs1133779	0.49415
NM_000383.4(AIRE):c.1197T>C (p.Ala399=)	rs1800521	0.39834
NM_000383.4(AIRE):c.681C>T (p.Gly227=)	rs1055311	0.21613
NM_000383.4(AIRE):c.588C>T (p.Ser196=)	rs878081	0.18544
NM_000383.4(AIRE):c.99T>C (p.Ala33=)	rs3746964	0.18036
NM_000383.4(AIRE):c.1095+6G>A	rs1800525	0.10544
NM_000383.4(AIRE):c.1203T>C (p.Pro401=)	rs61737072	0.05045
NM_000383.4(AIRE):c.1096-9G>C	rs113512196	0.01593
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)	rs74203920	0.01176
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)	rs34397615	0.01042
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu)	rs11910214	0.00580
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn)	rs34219046	0.00411
NM_000383.4(AIRE):c.595G>A (p.Val199Ile)	rs74162061	0.00404
NM_000383.4(AIRE):c.1116G>A (p.Ser372=)	rs61737006	0.00304
NM_000383.4(AIRE):c.1296G>A (p.Ala432=)	rs144359012	0.00222
NM_000383.4(AIRE):c.63C>T (p.Ala21=)	rs371796437	0.00176
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)	rs72650677	0.00100
NM_000383.4(AIRE):c.789C>T (p.Gly263=)	rs138066507	0.00099
NM_000383.4(AIRE):c.1383C>T (p.Ala461=)	rs147485628	0.00066
NM_000383.4(AIRE):c.457A>G (p.Ser153Gly)	rs200377867	0.00032
NM_000383.4(AIRE):c.1483C>T (p.Leu495=)	rs376909088	0.00024
NM_000383.4(AIRE):c.793G>A (p.Ala265Thr)	rs140835367	0.00024
NM_000383.4(AIRE):c.1244A>G (p.His415Arg)	rs149609996	0.00017
NM_000383.4(AIRE):c.498G>A (p.Pro166=)	rs372169498	0.00002
NM_000383.4(AIRE):c.1404G>A (p.Thr468=)	rs7281600
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs)	rs886041124
NM_000383.4(AIRE):c.581T>C (p.Met194Thr)	rs1351412367
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)	rs1800520

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