Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

Table 5

The list of all genetic variants of the PFAPA patients detected in AIM2 gene.

Variant	rs number	Number of patients (variant in heterozygous state)	MAF global/MAF patients
c.-536C>T	rs116289675	1	0.002/0.008
c.-605C>A	New	1	NA/0.008
c.-607delA	rs3834102	5	0.1152/0.04
c.-208A>C	rs41264459	10 + 1 homozygous	0.028/0.097
c.-28A>G	rs2298803	5	0.156/0.04
c.-21+45G>C	rs41264457	5	0.156/0.04
c.-20−43C>T	rs74555135	3	0.139/0.024

Variant nomenclature based on NCBI reference sequence NM_004833.1; MAF: minor allele frequency; NA: not available.