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 |