Additional file 21 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools
A table of ClinVar variant pairs with PS1 evidence, where one variant is classified as B/LB (b, lb, or b/lb) and the other is classified as VUS (uncertain, conflicting, not provided). All ClinVar colu
A table of ClinVar variant pairs with PS1 evidence, where one variant is classified as P/LP (p, lp, or p/lp) and the other is classified as VUS (uncertain, conflicting, not provided). All ClinVar colu
Neutral variants. Each line corresponds to a variant, providing: the amino acid replacement and its location in the protein sequence, the UniProt code for the protein, the values of the contribution o
