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)
201455481
20132814439
20123513574
201123211415
2010872410462
20091081211381
200882478609
200785278897
200686268821
200581978299
200460256133
200361026226
200255465582
200158715923
200055085558
199952575274
199846544668
199737923802
199630383042
199524312458
199422832291
199313971402
199211771182
1991743746
1990454456
1989309317
1988160160
19878888
19865858
19854545
19843436
19833738
19821818
19812324
19801819
197955
197822
197701

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