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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