Table 2.
Category | Database | |
---|---|---|
Integrated | Frequency | gnomAD |
Clinical | ClinVar | |
Phenotype | HPO | |
Gene description | NCBI Gene & GeneRIF | |
Constraint scores | gnomAD pLI/LOEUF | |
Conservation | UCSC 100 Vertebrates | |
Link-Out | Gene database | NCBI Entrez, GeneCards, PubMed, PanelApp |
Variant score/tool | MutationTaster, varSEAKSplicing, VariantValidator | |
Variant database | Beacon Network, VarSome | |
Genome browser | Locus in local IGV, Public UCSC, DGV, ENSEMBL |