pvs1_all_variants.xlsx

Pre-computed lists of variants from ClinVar and exome-wide (dbNSFP) for - PVS1 Very Strong Evidence (Nonsense or canonical splice affecting variant classified as VUS in a gene where >50% of high confidence LOF SNVs are classified as P/LP)针对PVS1非常强致病性证据的预计算变异列表，其数据来源包含临床变异数据库（ClinVar）与全外显子组范围的错义变异功能预测数据库（dbNSFP）。此类变异需满足如下条件：属于无义变异或经典剪接位点影响变异，且被判定为意义未明变异（Variant of Uncertain Significance, VUS）；其所在基因中，超过50%的高置信度功能丧失型单核苷酸变异（Loss-of-Function Single Nucleotide Variants, LOF SNVs）被归类为致病/可能致病（Pathogenic/Likely Pathogenic, P/LP）。