Data-driven penetrance insights for inherited arrhythmia genes

Explore curated clinical, structural, and functional evidence for KCNQ1, KCNH2, SCN5A, and RYR2 variants. Filter interactive tables, view graphical summaries, and download data to support research and clinical decision making.

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Jump straight to a dataset

KCNQ1

Long QT type 1 variants with curated penetrance, functional assays, and structural annotations.

KCNH2

Comprehensive view of LQT2 and SQT1 evidence, including patch-clamp electrophysiology summaries.

SCN5A

Variant browser highlighting Brugada syndrome and LQT3 penetrance estimates alongside carrier counts.

RYR2

Curated carriers and literature supporting catecholaminergic polymorphic ventricular tachycardia research.

Why this browser matters

Genome sequencing is now routine, yet interpreting rare variants remains challenging. The Variant Browser compiles published carrier cohorts, in vitro functional data, structural context, and in silico predictors to deliver transparent, quantitative penetrance estimates.

  • Curated evidence Harmonised data across literature, clinics, and population resources.
  • Interactive tools Filterable tables, downloadable CSVs, and chart-based summaries.
  • Clinical context Penetrance estimates to support variant reclassification and counselling.

Publications

Our analyses are described in:

Stay connected

The Kroncke lab maintains the Variant Browser and welcomes collaborations, feedback, and new data contributions.

Need the raw data?

Each table includes export options. For larger integrations, please reach out so we can coordinate access to updated datasets and metadata schemas.

Review the penetrance protocol