Additional file 2: Specific instance of assay literature curation results. Table S1. Summary of CDH1 variant-level curation. Table S2. Summary of CDH1 specific instance-level curation. Table S3. Compa

NIAID Data Ecosystem40

DNA Repair Function Scores for 2172 Variants in the BRCA1 Amino-Terminus

Brca1基因

临床遗传变异解读

Single nucleotide variants are the most frequent type of sequence changes detected in the genome and these are frequently variants of uncertain significance (VUS). VUS are changes in DNA for which dis

NIAID Data Ecosystem10

Pathogenic ClinVar variants in gnomAD at an AF>0.01

群体遗传学

临床遗传变异解读

This VCF file contains pathogenic ClinVar (20170104) variants that are present at an allele frequency of greater than 0.01 in the gnomAD database.

Figshare2018-06-07 更新50

Additional file 2: Table S1. of Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

临床遗传变异解读

群体遗传学数据应用

List of the all NMDpositive variants with allele frequencies greater than 0.01% in the set of genes described in TableÂ 2. Known and suspected founder mutations are indicated. PCD primary ciliary dysk

Figshare2017-02-07 更新30

Evaluation of variants regarded as secondary findings according to ACMG criteria.

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