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Table 5 Variants filtered based on a MAF < 1% in Exomes and Genomes in 84 known genes associated with cardiomyopathy for patient MR39

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
chr2:220283400 C  A chr2 rs375719734 SNV Heterozygous DES   coding missense Uncertain significance 0.0001205   45
chr22:19754227 G  C chr22 rs755937050 SNV Heterozygous TBX1   intronic,coding missense   0.0005598   38
chr14:76447058 G  A chr14 rs4252315 SNV Heterozygous TGFB3   coding missense Likely Benign 0.0002059 0.00219649 110
chr4:114290816 G  C chr4 rs79577190 SNV Heterozygous ANK2   coding missense Likely Benign 0.0006609 0.00159744 66
chr14:23886409 G  C chr14 rs3729823 SNV Heterozygous MHRT,MYH7   coding,intronic missense NA,Benign 0.0074622 0.00519169 135