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 2015.4
Mutation totals127836179235
Missense/nonsense71196100090 (details)
Splicing1187516356 (details)
Regulatory24583414 (details)
Small deletions1980326623 (details)
Small insertions813611184 (details)
Small indels19042553
Repeat variations 393488
Gross insertions/duplications 19733272
Complex rearrangements 12631699
Gross deletions 883513556
Gene/sequence data
Genes49487361
cDNA reference sequences47887421

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 2015.4)
201601
20155212937
20141914989
20138114373
2012606413412
20111094111344
20101009710497
20091122911389
200884758649
200786108894
200687238831
200582538309
200460626140
200361596214
200255805618
200158825919
200055425567
199952705289
199846644670
199738013804
199630303032
199524372464
199422832294
199313981401
199211801183
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