Frequency estimated for ~19K ClinVar variants in multi-ethnic populations (N=2795)




Comparing frequency with databases like 1000 Genomes, gnomAD, ExAC, GenomeAsia 100K




Variants linked to disorders, viz. Inborn-errors of Metabolism, Monogenic-diabetes, hereditary cancers and various other hereditary conditions are present




Linked to Global Variome shared LOVD for Standardized access, interoperability and retrieval








Stats

Variant Distribution

No of variants

19538

Pathogenic Information



Genes associated with diseases/disorders

Disorder/DiseasesDownload Gene listSearch Genes
Inborn Errors of Metabolism (IEM)
Maturity Onset Diabetes of the Young (MODY)
Hereditary Cancer




Data

Disorder/DiseasesDownload dataSearch in ClinIndb
Germline Variants
CFTR Variants
Drug response associated variants
VUS Category variants