List of variants in gene AIRE reported as benign by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 50

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HGVS	dbSNP	gnomAD frequency
NC_000021.9:g.44285777T>C	rs751032	0.89783
NM_000383.4(AIRE):c.1566+204T>C	rs2075878	0.49539
NM_000383.4(AIRE):c.995+109A>G	rs1078480	0.49492
NM_000383.4(AIRE):c.1578T>C (p.Asp526=)	rs1133779	0.49286
NM_000383.4(AIRE):c.1400+227C>T	rs111411199	0.39794
NM_000383.4(AIRE):c.1197T>C (p.Ala399=)	rs1800521	0.39210
NM_000383.4(AIRE):c.879+459C>G	rs941405	0.36738
NM_000383.4(AIRE):c.539-207T>A	rs878080	0.32915
NM_000383.4(AIRE):c.1567-127G>A	rs3746965	0.32654
NM_000383.4(AIRE):c.1096-288G>A	rs933150	0.29725
NM_000383.4(AIRE):c.879+156T>C	rs1003854	0.22610
NM_000383.4(AIRE):c.681C>T (p.Gly227=)	rs1055311	0.21613
NM_000383.4(AIRE):c.653-201C>T	rs2516560	0.20846
NM_000383.4(AIRE):c.588C>T (p.Ser196=)	rs878081	0.18544
NM_000383.4(AIRE):c.99T>C (p.Ala33=)	rs3746964	0.17550
NM_000383.4(AIRE):c.1401-28G>C	rs1800526	0.17294
NM_000383.4(AIRE):c.539-252T>C	rs2073609	0.13361
NM_000383.4(AIRE):c.1504-275G>A	rs760427	0.12654
NM_000383.4(AIRE):c.1095+6G>A	rs1800525	0.10544
NM_000383.4(AIRE):c.1567-292G>A	rs9974092	0.10424
NM_000383.4(AIRE):c.880-450G>C	rs2073610	0.07765
NM_000383.4(AIRE):c.1503+134T>C	rs41296229	0.06737
NM_000383.4(AIRE):c.653-145C>T	rs41277548	0.05710
NM_000383.4(AIRE):c.133-91C>T	rs73907152	0.05521
NM_000383.4(AIRE):c.1203T>C (p.Pro401=)	rs61737072	0.05045
NM_000383.4(AIRE):c.879+101G>A	rs2075877	0.04640
NM_000383.4(AIRE):c.880-297G>A	rs2073611	0.04438
NC_000021.9:g.44285603G>C	rs58274041	0.03425
NM_000383.4(AIRE):c.308-123T>C	rs62220372	0.03075
NM_000383.4(AIRE):c.995+139G>T	rs114771343	0.03060
NM_000383.4(AIRE):c.653-302G>A	rs73907156	0.03020
NM_000383.4(AIRE):c.1504-131G>A	rs28408186	0.03010
NM_000383.4(AIRE):c.-77C>A	rs150767556	0.02625
NM_000383.4(AIRE):c.1278+279G>A	rs11908988	0.02292
NM_000383.4(AIRE):c.1096-9G>C	rs113512196	0.01593
NM_000383.4(AIRE):c.538+51G>T	rs62220373	0.01485
NM_000383.4(AIRE):c.652+14C>T	rs41277546	0.01242
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)	rs74203920	0.01120
NM_000383.4(AIRE):c.1567-5C>T	rs192215705	0.00158
NM_000383.4(AIRE):c.1400+83A>C	rs115787564	0.00124
NM_000383.4(AIRE):c.789C>T (p.Gly263=)	rs138066507	0.00095
NM_000383.4(AIRE):c.348G>A (p.Pro116=)	rs74162060	0.00071
NM_000383.4(AIRE):c.*79C>G	rs72650681
NM_000383.4(AIRE):c.-41C>A	rs2146374912
NM_000383.4(AIRE):c.1095+78del	rs5844181
NM_000383.4(AIRE):c.1503+134T>A	rs41296229
NM_000383.4(AIRE):c.1503+236G>A	rs73368445
NM_000383.4(AIRE):c.1566+219dup	rs60821379
NM_000383.4(AIRE):c.1566+220G>A	rs56328754
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)	rs1800520

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