Human and Clinical Genetics - LUMC

(Centrum voor Humane en Klinische Genetica)

Disease-related variation databases

Last modified: December 19, 2011

General variation databases

• COSMIC - Catalogue Of Somatic Mutations In Cancer
• Diagnostic Mutation Databaselog-in required
• Genetic variation databases List of variation databases
• HGMD - The Human Gene Mutation Database (Cardiff)
• GWAScentral - a genotype-phenotype association database(formerly HGVBASE)
• HGVS database list List of variation databases and related sites
• Locus Specific database list List of variation databases based on various online resources and direct submissions
• MutDBAnnotated variant data (hg18)
• Universal Mutation Database
• Human Mitochondrial Genome Database

Gene variant databases

• Breast Cancer Mutation Data Base (BIC)
• Hb variant database
• Leiden Muscular Dystrophy data pages  (incl. muscular dystrophy mutation databases)
  Duchenne and Becker muscular dystrophy (DMD / BMD), Limb-Girdle muscular dystrophy (SCARMD, LGMD), diagnostic techniques
• Mutadatabase
• Neuronal Ceroid Lipofuscinoses (NCL) Mutations
• TCA Cycle Gene Mutation Database

Gene variant database software

• Leiden Open Variation Database (LOVD) powers the Leiden Muscular Dystrophy data pages and provides free hosting for other variation databases
• MUTbase
• The Waystation
• Universal Mutation Database

Sequence variation nomenclature

• HGVS guidelines - Sequence variation nomenclature guidelines of the Human Genome Variation Society
• Mutalyzer - a tool to check sequence variation descriptions

If you have any comments or suggestions be sure to let us know !  mailto:p.taschner@lumc.nl

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