HGMD
The Human Gene Mutation Database

at the Institute of Medical Genetics in Cardiff

QIAGEN
Symbol:

Number of entries in HGMD by type

Data typeNumber of entries
(public release for academic/non-profits only)
Number of entries
HGMD Professional release 2016.2
Mutation totals134732187995
Missense/nonsense74707105236 (details)
Splicing1249817120 (details)
Regulatory26443522 (details)
Small deletions2080327975 (details)
Small insertions856511668 (details)
Small indels20012662
Repeat variations 411495
Gross insertions/duplications 22043410
Complex rearrangements 13441743
Gross deletions 955514164
Gene/sequence data
Genes52557674
cDNA reference sequences50767709

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 2016.2)
2016105774
20155815612
20142915235
201347214426
20121206213403
20111106311338
20101016610505
20091125711384
200885078653
200787648896
200687438831
200582548314
200460806144
200361696222
200255855619
200158935920
200055495566
199952705288
199846674672
199738003803
199630313033
199524372464
199422832294
199313981401
199211801183
1991745745
1990454457
1989315318
1988160160
19878889
19865858
19854545
19843536
19833838
19821818
19812424
19801819
197955
197822
197701

Designed by P.D.Stenson HGMD®
Copyright © Cardiff University 2015