Table 2 Most frequent variants with clinical implications identified from 2217 exomes from Mexican Amerindian and Mestizo individuals
Variant | Genomic position | Allele change | MAF | Gene location | Mutation type | Nucleotide/Aminoacid Change | Pathogenecity (ClinVar/InterVar) |
|---|---|---|---|---|---|---|---|
– | 71,896,854 | delA | 0.00045 | Exonic | Frameshift deletion | c.5645delA (p.V1883Sfs*83) | clinvar: Pathogenic/InterVar: Pathogenic |
rs115407852 | 71,908,183 | G/A | 0.00045 | Exonic/Ferlin, C-terminal domain | Nonsynonymous SNV | c.6116G > A (p.Arg2039Gln) | clinvar: Conflicting_interpretations_of_pathogenicity/InterVar: Likelypathogenic |
– | 71,783,202 | G/A | 0.00023 | Intronic | Splicing | – | clinvar: UNK/InterVar: Pathogenic |
rs863225021 | 71,892,311 | C/T | 0.00023 | Exonic | Nonsynonymous SNV | c.5194C > T (p.Arg1732Trp) | clinvar: Pathogenic/Likely_pathogenic/InterVar: Uncertainsignificance |
rs746243052 | 71,894,607 | C/T | 0.00023 | Exonic/C2 domain | Nonsynonymous SNV | c.5419C > T (p.Arg1807Trp) | clinvar: Pathogenic/Likely_pathogenic/InterVar: Uncertainsignificance |
rs121908955 | 71,909,727 | C/T | 0.00023 | Exonic/Ferlin, C-terminal domain | Nonsynonymous SNV | c.6241C > T (p.Arg2081Cys) | clinvar: Pathogenic/Likely_pathogenic/InterVar: Likelypathogenic |
rs34061568 | 71,797,381 | A/C | 0.00023 | Exonic/Peroxin/Ferlin domain | Nonsynonymous SNV | c.3002A > C (p.Lys1001Thr) | clinvar: Conflicting_interpretations_of_pathogenicity/InterVar: Likelypathogenic |