Welcome to Cafe CardioKit
The variants that have been made discoverable on this site represent processed aggregate level records from a targeted approach to sequencing for ~50 genes in batches of cardiac disease patients.
No pathogenicity statements are given, as these data are simply the total set of variants observed, aiming to get better frequency estimates for the non-pathogenic ones in the future.
If you discover a variant that is of interest to you then it is possible to follow up on the record and request further information from the data owner. To facilitate this an email link is available when you are on the web page for an individual variant record.
All data was generated by the Department of Genetics at the University Medical Center Groningen.
This site utilises the Cafe Variome data discovery platform for the display of the data.