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 2015.2
Mutation totals121002170118
Missense/nonsense6743994860 (details)
Splicing1130115476 (details)
Regulatory22763242 (details)
Small deletions1891525454 (details)
Small insertions776210617 (details)
Small indels18062436
Repeat variations 380476
Gross insertions/duplications 17983086
Complex rearrangements 11791638
Gross deletions 814612833
Gene/sequence data
Genes44367022
cDNA reference sequences42847115

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 2015.2)

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