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 2017.4
Mutation totals157133220270
Missense/nonsense87391124511 (details)
Splicing1433019796 (details)
Regulatory30503974 (details)
Small deletions2368632440 (details)
Small insertions984413570 (details)
Small indels22903033
Repeat variations 455513
Gross insertions/duplications 28064058
Complex rearrangements 15761949
Gross deletions 1170516426
Gene/sequence data
Genes66038938
cDNA reference sequences64639027

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 2017.4)
2018037
2017816405
20163619198
201510717103
2014676015645
20131394414599
20121326113495
20111124511358
20101043010539
20091132111410
200885998684
200788368920
200688218871
200582728341
200461246153
200362066231
200255915629
200159045924
200055495572
199952775285
199846764679
199738013804
199630303031
199524562460
199422872293
199314001402
199211811184
1991744746
1990455458
1989317319
1988160160
19878989
19865858
19854545
19843636
19833838
19821818
19812424
19801919
197955
197822
197711

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Copyright © Cardiff University 2017