Table 2 Comparison of ARVC allele counts (AC) of the pathogenic variants when using the overall gnomAD frequency (Global) and the cross-ethnic frequency (i.e. common/rare in at least one of the ethnic groups).

From: Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database

  Global In at least one ethnic group
  Common AC Rare AC Common AC Rare AC
(A) MAF cut-off 0.001
DSC2 0 374 207 167
DSG2 0 250 141 109
DSP 0 499 403 96
PKP2 631 523 987 167
TOTAL 631 1646 1738 539
(B) MAF cut-off 0.0001
DSC2 325 49 336 38
DSG2 171 79 209 41
DSP 403 96 472 27
PKP2 965 189 1096 58
TOTAL 1864 413 2113 164
  1. Two different MAF thresholds were used: (A) MAF ≥ 0.001 for common variants; (B) MAF ≥ 0.0001 for common variants. The overall prevalence of the ARVC genotype in 138,632 gnomAD individuals is 1 in 257, when using the MAF = 0.001 threshold, and 1 in 845 when the MAF = 0.0001 threshold was used. The reference sequences used were as follows: DSC2: ENST00000280904.10 (NM_024422), DSG2: ENST00000261590.12 (NM_001943), DSP: ENST00000379802.7 (NM_004415), JUP: ENST00000393931.7 (NM_002230) and PKP2: ENST00000070846.10 (NM_004572)