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Table 6 Variants filtered based on a MAF < 1% in Exomes and Genomes in 84 known genes associated with cardiomyopathy for patient MR40

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

Variant

Chromosome

RS ID

Type

Zygosity

Genes

Function

Coding impact

ClinVar class

Exome Frequency

1000Genomes

Coverage

chr2:179434186 T ⇒ A

chr2

rs201095164

SNV

Heterozygous

MIR548N,TTN,TTN-AS1

coding,intronic

missense

Uncertain significance

0.0001499

 

134

chr2:179403853 T ⇒ C

chr2

rs200544701

SNV

Heterozygous

MIR548N,TTN,TTN-AS1

coding,intronic,non-coding exon

missense

Uncertain significance

0.00015744

 

155

chr19:35530580 G ⇒ A

chr19

rs150721582

SNV

Heterozygous

SCN1B

coding

missense

Uncertain significance, Likely Benign

0.00049492

0.000399361

34

chr22:19754227 G ⇒ C

chr22

rs755937050

SNV

Heterozygous

TBX1

intronic,coding

missense

 

0.0005598

 

16

chr10:88446830 G ⇒ A

chr10

rs121908338

SNV

Heterozygous

LDB3

intronic,coding,splicing

missense

Uncertain significance, Benign,Likely Benign

0.00455428

0.00778754

28

chr14:76447058 G ⇒ A

chr14

rs4252315

SNV

Heterozygous

TGFB3

coding

missense

Likely Benign

0.00020591

0.00219649

86

chr4:114290816 G ⇒ C

chr4

rs79577190

SNV

Heterozygous

ANK2

coding

missense

Likely Benign

0.00066088

0.00159744

51

chr14:23886409 G ⇒ C

chr14

rs3729823

SNV

Heterozygous

MHRT,MYH7

coding,intronic

missense

NA,Benign

0.00746219

0.00519169

101