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)
201501
20141011848
20133114725
201212113523
2011516911399
2010979210477
20091103911386
200882998614
200785748929
200686698836
200582208302
200460326132
200361116225
200255545582
200158795926
200055095560
199952655286
199846584670
199737933803
199630313034
199524342461
199422842294
199314001403
199211801181
1991744746
1990453455
1989309317
1988160160
19878889
19865858
19854545
19843536
19833838
19821818
19812324
19801819
197955
197822
197701

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Copyright © Cardiff University 2015