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 2016.3
Mutation totals134728192001
Missense/nonsense74705107554 (details)
Splicing1249817439 (details)
Regulatory26443624 (details)
Small deletions2080228508 (details)
Small insertions856511888 (details)
Small indels20012713
Repeat variations 411501
Gross insertions/duplications 22033566
Complex rearrangements 13441766
Gross deletions 955514442
Gene/sequence data
Genes52557831
cDNA reference sequences50777857

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 2016.3)
2016129314
20155915871
20142915316
201347214485
20121206313441
20111106211340
20101016610507
20091125611386
200885078656
200787628899
200687448837
200582548320
200460796144
200361696223
200255855623
200158945922
200055495566
199952675286
199846674672
199737993803
199630313033
199524372464
199422832294
199313981401
199211801183
1991744745
1990454457
1989315318
1988160160
19878889
19865858
19854545
19843536
19833838
19821818
19812424
19801819
197955
197822
197701

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