List of variants in gene AIRE reported as likely pathogenic by Invitae

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.1203_1278+28del	rs1568929576	0.00008
NM_000383.4(AIRE):c.652+1G>T	rs199612115	0.00004
NM_000383.4(AIRE):c.1278+1G>A	rs1184559866	0.00001
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys)	rs386833673	0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp)	rs747941115	0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)	rs1231469574	0.00001
NM_000383.4(AIRE):c.275G>A (p.Arg92Gln)	rs1288735234	0.00001
NM_000383.4(AIRE):c.308-1G>C	rs764588340	0.00001
NM_000383.4(AIRE):c.1278+1del	rs996389327
NM_000383.4(AIRE):c.1279-2A>G	rs1555873087
NM_000383.4(AIRE):c.132+2T>C
NM_000383.4(AIRE):c.1400+1G>A	rs1469386000
NM_000383.4(AIRE):c.1400+2T>C
NM_000383.4(AIRE):c.1401-1G>A
NM_000383.4(AIRE):c.1503+1G>A
NM_000383.4(AIRE):c.1503+1G>T	rs1156582406
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly)	rs747941115
NM_000383.4(AIRE):c.23G>A (p.Arg8His)
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu)	rs121434255
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
NM_000383.4(AIRE):c.290T>C (p.Leu97Pro)	rs2146375951
NM_000383.4(AIRE):c.307+2T>G	rs2146375964
NM_000383.4(AIRE):c.43C>G (p.Arg15Gly)	rs179363875
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys)	rs179363875
NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)
NM_000383.4(AIRE):c.539-2A>G	rs2146377702
NM_000383.4(AIRE):c.54C>G (p.Ile18Met)
NM_000383.4(AIRE):c.652+2T>C	rs1555872272
NM_000383.4(AIRE):c.798+1G>C	rs138489664
NM_000383.4(AIRE):c.798+1G>T	rs138489664
NM_000383.4(AIRE):c.995+1G>A
NM_000383.4(AIRE):c.995+1G>C
NM_000383.4(AIRE):c.996-1G>A

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