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Table 4 Variants filtered based on a MAF < 1% in Exomes and Genomes in 84 known genes associated with cardiomyopathy for patient MR41

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

chr10:69959174 C  T

chr10

rs71534278

SNV

Heterozygous

MYPN

 

non-coding exon,coding

missense

Notprovided,NA,Pathogenic,Likely Benign

0.0030344

0.00259585

31

chr2:179433611 G  A

chr2

 

SNV

Heterozygous

MIR548N,TTN,TTN-AS1

 

coding,intronic

nonsense

   

227

chr6:112460443 C  T

chr6

rs782592337

SNV

Heterozygous

LAMA4

 

coding

missense

 

8.23764E-06

 

137

chr2:179659806 G  A

chr2

rs199590524

SNV

Heterozygous

TTN

 

coding

missense

 

4.94438E-05

 

123