List of variants reported as likely pathogenic for Polyglandular autoimmune syndrome, type 1 by Labcorp Genetics (formerly Invitae), Labcorp

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

Total variants: 33

Download table as spreadsheet

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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.