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

BMC Medical Genomics

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

Variant	Chromosome	RS ID	Type	Zygosity	Genes	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

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