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 2013.1
Mutation totals99869136956
Missense/nonsense5623975875 (details)
Splicing946712665 (details)
Regulatory17532663 (details)
Small deletions1579621108 (details)
Small insertions64948743 (details)
Small indels14592025
Repeat variations 305416
Gross insertions/duplications 12532271
Complex rearrangements 9471367
Gross deletions 61569823
Gene/sequence data
Genes37705455
cDNA reference sequences36515252

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 2013.1)
201321302
20122812950
20118511334
2010153510243
20091008411341
200880928532
200784328838
200685618748
200581408269
200460056096
200360396131
200255245576
200158585923
200055045555
199952595278
199846464663
199737853803
199630323039
199524212457
199422832289
199313941399
199211751181
1991742746
1990453455
1989309315
1988160160
19878788
19865759
19854445
19843335
19833538
19821717
19812324
19801819
197955
197822
197701

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