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 2018.4
Mutation totals171400248700
Missense/nonsense95591142868 (details)
Splicing1557621773 (details)
Regulatory32484253 (details)
Small deletions2564136227 (details)
Small insertions1068615267 (details)
Small indels24513327
Repeat variations 478525
Gross insertions/duplications 31084451
Complex rearrangements 16522062
Gross deletions 1296917947
Gene/sequence data
Genes719610736
cDNA reference sequences708810554

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 2018.4)
201904
20181917463
20171624961
201614919629
2015628417352
20141433917146
20131418114588
20121331313645
20111117411338
20101048110578
20091131911420
200886238703
200788688928
200688248870
200582858360
200461266162
200362106259
200256045631
200159115924
200055505576
199952795284
199846754681
199738043805
199630293030
199524542460
199422902292
199314011405
199211821185
1991743746
1990455459
1989317319
1988160162
19878989
19865858
19854545
19843636
19833838
19821818
19812424
19801919
197955
197822
197711

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