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 2017.3
Mutation totals148399214158
Missense/nonsense82185120901 (details)
Splicing1364619247 (details)
Regulatory28863925 (details)
Small deletions2260531571 (details)
Small insertions937313167 (details)
Small indels21792970
Repeat variations 435511
Gross insertions/duplications 26103942
Complex rearrangements 15121925
Gross deletions 1096815999
Gene/sequence data
Genes59828729
cDNA reference sequences58288776

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 2017.3)
2017411347
20163018431
20157017019
201440815573
20131209314593
20121310413473
20111118311350
20101036610526
20091129911399
200885508674
200788098919
200688028870
200582608335
200461006152
200361786226
200255905626
200159035923
200055455566
199952695285
199846734676
199737993803
199630323033
199524562462
199422882294
199314001401
199211811184
1991744746
1990455458
1989315319
1988160160
19878889
19865858
19854545
19843536
19833838
19821818
19812424
19801919
197955
197822
197711

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Copyright © Cardiff University 2017