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 2018.1
Mutation totals157131224642
Missense/nonsense87391127200 (details)
Splicing1432920132 (details)
Regulatory30504029 (details)
Small deletions2368633090 (details)
Small insertions984413864 (details)
Small indels22893088
Repeat variations 455517
Gross insertions/duplications 28064117
Complex rearrangements 15761960
Gross deletions 1170516645
Gene/sequence data
Genes66119073
cDNA reference sequences64718848

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 2018.1)
20180812
20171019690
20163619366
201510717113
2014675915706
20131394314606
20121326213524
20111124511364
20101043210554
20091131811412
200886008689
200788368921
200688218871
200582728343
200461236153
200362066231
200255915632
200159055925
200055485572
199952775286
199846764681
199738013804
199630303031
199524552460
199422862292
199314001402
199211811184
1991744746
1990455458
1989317319
1988160160
19878989
19865858
19854545
19843636
19833838
19821818
19812424
19801919
197955
197822
197711

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Copyright © Cardiff University 2017