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 2016.4
Mutation totals141635197952
Missense/nonsense78401111135 (details)
Splicing1308717924 (details)
Regulatory27643725 (details)
Small deletions2174429381 (details)
Small insertions897512245 (details)
Small indels21002784
Repeat variations 421505
Gross insertions/duplications 23893670
Complex rearrangements 14171802
Gross deletions 1033714781
Gene/sequence data
Genes56398028
cDNA reference sequences54418046

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 2016.4)
20161914431
20156616516
20145415423
2013607814516
20121298813444
20111113511350
20101028110510
20091127711392
200885278661
200787768902
200687578840
200582728329
200460936150
200361736222
200255885624
200159005923
200055495568
199952695286
199846684672
199737993803
199630313033
199524602464
199422892294
199314001401
199211801183
1991744745
1990454457
1989315318
1988160160
19878889
19865858
19854545
19843536
19833838
19821818
19812424
19801919
197955
197822
197711

Designed by P.D.Stenson HGMD®
Copyright © Cardiff University 2017