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 2017.1
Mutation totals141615203885
Missense/nonsense78386114703 (details)
Splicing1308418386 (details)
Regulatory27633801 (details)
Small deletions2174430169 (details)
Small insertions897412557 (details)
Small indels21012866
Repeat variations 421507
Gross insertions/duplications 23893767
Complex rearrangements 14171857
Gross deletions 1033615272
Gene/sequence data
Genes56438271
cDNA reference sequences54488267

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 2017.1)
201722736
20162217217
20156716811
20145415451
2013607314554
20121298613460
20111111511337
20101027810515
20091127611397
200885258667
200787758905
200687738861
200582718332
200460926149
200361736222
200255875626
200159005923
200055495570
199952685285
199846684672
199737993803
199630313033
199524572463
199422872294
199314001401
199211811184
1991744745
1990454458
1989315319
1988160160
19878889
19865858
19854545
19843536
19833838
19821818
19812424
19801919
197955
197822
197711

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Copyright © Cardiff University 2017