Variant effect predictions for 783 transporter and ion-channel genes

Look up any of the 349,056 ClinVar variants in these genes. Every variant has a pathogenicity score and an evidence level, set with the calibration method ClinGen recommends, for use with the ACMG/AMP guidelines. Missense, splice, intronic, frameshift and all other variant types are included.

For example SLC19A2, CFTR, KCNQ1,

SLC19A2, the thiamine transporter, drawn across the cell membrane.

349,056 ClinVar variants
783 genes
13 variant types
176,153 missense variants with predicted activity

Using these predictions for variant classification? Start with what the evidence levels mean and the known limitations.

Genes

Pick a family or type a name. Each gene page has a protein map, a 3D structure and a table of every variant.

The coloured bar under each gene shows how its variants split across evidence levels, from pathogenic (left, red) to benign (right, blue).