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 2023.4
Mutation totals291339504008
Missense/nonsense169219315306 (details)
Splicing2508941951 (details)
Regulatory47446757 (details)
Small deletions4199466172 (details)
Small insertions1786728889 (details)
Small indels38345328
Repeat variations 573692
Gross insertions/duplications 52247427
Complex rearrangements 22992911
Gross deletions 2049628575
Gene/sequence data
Genes1177518954
cDNA reference sequences1161318759

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 2023.4)
202402
2023418873
20222363262
20211536997
2020755277594
20192392839821
20182706928958
20172588729081
20161979920852
20151747218265
20141733417531
20131465214725
20121369513747
20111144811500
20101061910677
20091141411449
200886938725
200789178941
200688668878
200583278377
200461546171
200362516265
200256315643
200159125927
200055605577
199952785282
199846714679
199738043809
199630273028
199524532464
199422882295
199313961400
199211821186
1991742745
1990459461
1989320321
1988162163
19878989
19865859
19854545
19843636
19833838
19821818
19812425
19801919
197955
197822
197711

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