Gene AIRE Details
It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.
Gene: AIRE
Disorder: Autoimmune polyendocrinopathy syndrome
Allele Frequency: 0.00125628
Carrier Rate: 0.00250941
Max At-Risk Couples rate: 0.0000063
The table below lists all clinically relevant variants identified in the AIRE gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 256 |
45717609 |
AIRE |
NM_000383.4:c.1637G>C |
p.*546Serext*60 |
2 |
0.000838% |
| 628 |
45711075 |
AIRE |
NM_000383.4:c.977C>T |
NP_000374.1:p.Pro326Leu |
1 |
0.000419% |
