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HGMD: Human Gene Mutation Database

Case studies

Rockefeller University, Scientist Builds Mutation Analysis
Tools with HGMD

Data

Sample data

Flyers

Human Gene Mutation Data

Papers

Where Genotype is not predictive of phenotype: towards
an understanding of the molecular basis of reduced penetrance
in human inherited disease

Feature videos

Rare diseases

Releases

2018.4 Release

2018.3 Release

2018.2 Release

2018.1 Release

2017.4 Release

2017.3 Release

2017.2 Release

2017.1 Release

Technical notes

Use of HGMD mutation data within popular variant annotation tools

User manuals

HGMD Professional User Manual

Frequently Asked Questions (FAQ 2015)

SQL Queries in HGMD Professional

Video tutorials

Search by gene

Search by mutation

Search by phenotype

Gene report overview

Mutation report overview

HGMD mutation classification overview

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