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 2020.4
Mutation totals209911306768
Missense/nonsense118680179772 (details)
Splicing1890426610 (details)
Regulatory38704909 (details)
Small deletions3112244074 (details)
Small insertions1295618530 (details)
Small indels29373975
Repeat variations 00
Gross insertions/duplications 38855391
Complex rearrangements 18882341
Gross deletions 1566921166
Gene/sequence data
Genes878412627
cDNA reference sequences860612378

Number of mutation entries by year of publication

Year of publication 44Number of entries
(public release for academic/non-profits only)
Number of entries
(HGMD Professional release 2020.4)
2020617581
20192326106
20188227959
2017938727334
20161772020152
20151668018132
20141522617380
20131447214655
20121339313704
20111122211426
20101047710604
20091131611406
200886178690
200788578897
200688248854
200582758350
200461016133
200361976245
200256035623
200158775905
200055375560
199952495255
199846584669
199737883789
199630233023
199524392452
199422822285
199313891395
199211811184
1991738742
1990457461
1989320320
1988160162
19878989
19865858
19854545
19843636
19833838
19821818
19812424
19801919
197955
197822
197711

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