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 |