HGMD
The Human Gene Mutation Database

at the Institute of Medical Genetics in Cardiff

BioBase
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Number of entries in HGMD by type

Data typeNumber of entries
(public release for academic/non-profits only)
Number of entries
HGMD Professional release 2014.2
Mutation totals108508156932
Missense/nonsense6071387173 (details)
Splicing1023814302 (details)
Regulatory19093024 (details)
Small deletions1712323731 (details)
Small insertions70589917 (details)
Small indels16062282
Repeat variations 336456
Gross insertions/duplications 14732797
Complex rearrangements 10401567
Gross deletions 701211683
Gene/sequence data
Genes40376800
cDNA reference sequences38966567

Number of mutation entries by year of publication

Year of publicationNumber of entries
(public release for academic/non-profits only)
Number of entries
(HGMD Professional release 2014.2)

Designed by P.D.Stenson HGMD®
Copyright © Cardiff University 2013