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)
201521476
20141014224
20133214273
201212213368
2011516511345
2010978510475
20091101011370
200882978632
200785218889
200686528822
200582218306
200460306134
200360996216
200255545596
200158745928
200055075564
199952645286
199846574669
199737933804
199630303033
199524372465
199422842294
199314001403
199211791182
1991744745
1990453457
1989309317
1988160160
19878889
19865858
19854545
19843536
19833838
19821818
19812324
19801819
197955
197822
197701

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