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 2018.3
Mutation totals157114240269
Missense/nonsense87397137354 (details)
Splicing1431721222 (details)
Regulatory30464189 (details)
Small deletions2368335074 (details)
Small insertions984414746 (details)
Small indels22893246
Repeat variations 455524
Gross insertions/duplications 28034352
Complex rearrangements 15752031
Gross deletions 1170517531
Gene/sequence data
Genes666210303
cDNA reference sequences653110339

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 2018.3)
20181311639
20171522801
20163719490
201513917223
2014694117096
20131388514572
20121324013621
20111113711328
20101044610576
20091128511415
200885878688
200788298921
200688198875
200582678348
200461226155
200362046233
200255885632
200159025923
200055445573
199952755284
199846754681
199738013804
199630303031
199524542460
199422862292
199314011405
199211821185
1991743745
1990455458
1989317319
1988160161
19878989
19865858
19854545
19843636
19833838
19821818
19812424
19801919
197955
197822
197711

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Copyright © Cardiff University 2017