Human and Clinical Genetics - LUMC

(Centrum voor Humane en Klinische Genetica)

Mutation databases

Last modified: January 21, 2008

General mutation databases

• COSMIC - Catalogue Of Somatic Mutations In Cancer
• Genetic variation databases List of variation databases
• HGMD - The Human Gene Mutation Database (Cardiff)
• HGVbase - Human Genome Variation database
• HGVS database list List of variation databases and related sites
• Protein Mutation Database
• Universal Mutation Database
• GenomeWeb Human Mutation Database list

Specific mutation 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
• Neuronal Ceroid Lipofuscinoses (NCL) Mutations
TCA Cycle Gene Mutation Database

Mutation database software

• Leiden Open Variation Database (LOVD) powers the Leiden Muscular Dystrophy data pages and provides free hosting for other variation databases
• MuStaR Mutation Storage and Retrieval
• MutationView
• 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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