List of variants in gene AIRE reported as pathogenic 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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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.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.62C>T (p.Ala21Val)	rs179363886	0.00001
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)	rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs)	rs764878471
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.967_979del (p.Leu323fs)	rs386833675
NM_000383.4(AIRE):c.995+3_995+5delinsTAT	rs2040536458

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