List of variants in gene AIRE reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 48

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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.538+42del	rs3214074	0.06978
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.1411C>T (p.Arg471Cys)	rs74203920	0.01176
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.1401-11C>T	rs371136111	0.00444
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.1400+10C>T	rs372277949	0.00304
NM_000383.4(AIRE):c.1296G>A (p.Ala432=)	rs144359012	0.00222
NM_000383.4(AIRE):c.1566+8C>T	rs72650680	0.00206
NM_000383.4(AIRE):c.63C>T (p.Ala21=)	rs371796437	0.00176
NM_000383.4(AIRE):c.1567-5C>T	rs192215705	0.00158
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)	rs72650677	0.00100
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val)	rs79212994	0.00068
NM_000383.4(AIRE):c.1437G>A (p.Val479=)	rs181029582	0.00041
NM_000383.4(AIRE):c.521G>A (p.Arg174His)	rs145732243	0.00035
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn)	rs146810389	0.00023
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn)	rs142788946	0.00022
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg)	rs148012328	0.00022
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp)	rs376901046	0.00016
NM_000383.4(AIRE):c.1312G>A (p.Gly438Arg)	rs553396434	0.00015
NM_000383.4(AIRE):c.1104G>A (p.Pro368=)	rs377079396	0.00014
NM_000383.4(AIRE):c.1450G>A (p.Val484Met)	rs367966318	0.00010
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu)	rs193922417	0.00010
NM_000383.4(AIRE):c.798+1G>A	rs138489664	0.00006
NM_000383.4(AIRE):c.1031C>T (p.Thr344Ile)	rs929430876	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.65T>G (p.Val22Gly)
NM_000383.4(AIRE):c.799-17G>A	rs72650675
NM_000383.4(AIRE):c.884A>G (p.Asn295Ser)	rs2040534330
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675
NM_000383.4(AIRE):c.995+3_995+5delinsTAT	rs2040536458

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