Table 1 Summary of the ARVC pathogenic and unknown variants observed in the gnomAD data per gene.

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

Gene Transcript ID AAc N of variants on the ARVC mutation database Total N of variants in gnomAD N of variants per AAc N of ARVC-associated variants in gnomAD
Pathogenic Unknown variants Pathogenic (%) Unknown variants (%)
DSC2 ENST00000280904.10—NM_024422 901 42 35 1374 1.53 19 (45) 20 (57)
DSG2 ENST00000261590.12—NM_001943 1118 50 60 1516 1.36 26 (52) 40 (67)
DSP ENST00000379802.7—NM_004415 2871 86 96 3052 1.06 21 (24) 54 (56)
JUP ENST00000393931.7—NM_002230 745 15 14 1127 1.51 10 (67) 8 (57)
PKP2 ENST00000070846.10—NM_004572 837 171 61 1338 1.6 41 (24) 30 (49)
TOTAL    364 266 8407   117 (32)  152 (57)
  1. Of the previously reported 364 pathogenic variants 32% were present in gnomAD. The proportion of unknown ARVC variants was higher (49%)
  2. AAc amino acid count