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 2014.4
Mutation totals115050163610
Missense/nonsense6425791085 (details)
Splicing1082514840 (details)
Regulatory20703106 (details)
Small deletions1811724590 (details)
Small insertions745310309 (details)
Small indels17032367
Repeat variations 360459
Gross insertions/duplications 16202953
Complex rearrangements 11141610
Gross deletions 753112291
Gene/sequence data
Genes42357073
cDNA reference sequences40896841

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 2014.4)

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