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 2013.4
Mutation totals105417148413
Missense/nonsense5916182176 (details)
Splicing994913641 (details)
Regulatory18692884 (details)
Small deletions1657222610 (details)
Small insertions68359423 (details)
Small indels15512173
Repeat variations 331434
Gross insertions/duplications 14152600
Complex rearrangements 10131504
Gross deletions 672110968
Gene/sequence data
Genes39536137
cDNA reference sequences38155911

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 2013.4)
201403
20131511744
20123213490
201111211418
2010617410399
20091063511362
200881858559
200784938899
200685978789
200581798304
200460216113
200360516140
200255365579
200158715930
200055055555
199952605275
199846524667
199737943803
199630383042
199524212456
199422832293
199313971402
199211751181
1991743746
1990454456
1989309315
1988160160
19878788
19865859
19854545
19843435
19833638
19821717
19812324
19801819
197955
197822
197701

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