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


Variant Distribution

No of variants


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


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