HGMD_FAQ_2019
HGMD: Human Gene Mutation Database
Rockefeller University, Scientist Builds Mutation Analysis Tools with HGMD
Sample data
Human Gene Mutation Data
Where Genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
Rare diseases
2019.4 Release
2019.3 Release
2019.2 Release
2019.1 Release
2018.4 Release
2018.3 Release
2018.2 Release
2018.1 Release
2017.4 Release
2017.3 Release
2017.2 Release
2017.1 Release
Use of HGMD mutation data within popular variant annotation tools
HGMD Professional User Manual
Frequently Asked Questions (FAQ 2019)
SQL Queries in HGMD Professional
Search by gene
Search by mutation
Search by phenotype
Gene report overview
Mutation report overview
HGMD mutation classification overview
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