In dbVar I have been able to get the total number of unique genes affected by deletions, insertions and duplication which report classified this CNV as pathogenic.
Now, I would like to do the same but with short variants. Someone knows if this is given already somewhere??
Info: dbVar provides Nonredundant_Structural_Variants datasets. One of them contains pathogenic CNVs and the genes associated. With a simple filtering process, it is easy to get the number of genes that at least one time has been affected by a CNV and clinical scientits classified this as pathogenic. This is info is given here https://github.com/ncbi/dbvar/tree/master/Structural_Variant_Sets/Nonredundant_Structural_Variants
In HGMD I have got 9403 unique genes affected with disease-causing variants.
