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Table 3 Variants filtered based on a MAF < 1% in Exomes and Genomes in 84 known genes associated with cardiomyopathy for patient MR37

From: Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases

Variant Chromosome RS ID Type Zygosity Genes Phenotypes Function Coding impact ClinVar class Exome Frequency 1000Genomes Coverage
chr12:32945646 delT chr12 rs727504432 Deletion (1) Heterozygous PKP2 Cardiomyopathy coding frameshift Likely Pathogenic, Pathogenic    152
chr15:73617434 C  T chr15 rs201319883 SNV Heterozygous HCN4   coding missense Uncertain significance 8.23655E-06   140
chr12:33049482 G  T chr12 rs199601548 SNV Heterozygous PKP2 Cardiomyopathy coding missense Uncertain significance 0.000167926   9
chr6:7576619 G  A chr6 rs142494121 SNV Heterozygous DSP Cardiomyopathy coding missense Uncertain significance, Likely Benign 0.0011205   189