HGMD
The Human Gene Mutation Database

at the Institute of Medical Genetics in Cardiff

QIAGEN
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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 2016.1
Mutation totals127844183500
Missense/nonsense71203102530 (details)
Splicing1187516753 (details)
Regulatory24583448 (details)
Small deletions1980427301 (details)
Small insertions813611438 (details)
Small indels19042600
Repeat variations 393489
Gross insertions/duplications 19733353
Complex rearrangements 12631729
Gross deletions 883513859
Gene/sequence data
Genes49607524
cDNA reference sequences47977570

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 2016.1)
201642040
20155315012
20141915082
201310014423
2012606613398
20111093011336
20101009910506
20091121511384
200884758653
200786108896
200687238832
200582538314
200460626143
200361666222
200255805619
200158825920
200055425567
199952695288
199846654672
199738003803
199630303033
199524372464
199422832294
199313981401
199211791183
1991745745
1990453457
1989315318
1988160160
19878889
19865858
19854545
19843536
19833838
19821818
19812424
19801819
197955
197822
197701

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