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 2019.1
Mutation totals171397256070
Missense/nonsense95591147983 (details)
Splicing1557422331 (details)
Regulatory32484310 (details)
Small deletions2564137060 (details)
Small insertions1068615614 (details)
Small indels24513405
Repeat variations 478529
Gross insertions/duplications 31084507
Complex rearrangements 16522083
Gross deletions 1296818248
Gene/sequence data
Genes723510914
cDNA reference sequences709410695

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 2019.1)
201911406
20181923008
20171625263
201614919663
2015628317367
20141433917154
20131418014598
20121331313647
20111117411355
20101048110588
20091131911423
200886238707
200788688928
200688248872
200582868364
200461256162
200362106259
200256045633
200159105930
200055505576
199952795285
199846754682
199738043805
199630293030
199524532462
199422902292
199314011405
199211821185
1991743746
1990455459
1989317319
1988160162
19878989
19865858
19854545
19843636
19833838
19821818
19812424
19801919
197955
197822
197711

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Copyright © Cardiff University 2017