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 2015.1
Mutation totals114921166768
Missense/nonsense6418092974 (details)
Splicing1082115168 (details)
Regulatory20703181 (details)
Small deletions1809624957 (details)
Small insertions742810415 (details)
Small indels17032404
Repeat variations 360471
Gross insertions/duplications 16203005
Complex rearrangements 11141628
Gross deletions 752912565
Gene/sequence data
Genes41746905
cDNA reference sequences40367025

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 2015.1)

Designed by P.D.Stenson HGMD®
Copyright © Cardiff University 2015