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 2026.4
Mutation totals354396584565
Missense/nonsense210469365404 (details)
Splicing3015548868 (details)
Regulatory51377384 (details)
Small deletions5014776905 (details)
Small insertions2128733976 (details)
Small indels44006224
Repeat variations 655732
Gross insertions/duplications 60208606
Complex rearrangements 25193337
Gross deletions 2360733129
Gene/sequence data
Genes1456219219
cDNA reference sequences1440619039

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 2026.4)
202601710
2025626545
20241232644
20231233238
20224065453
20212132038435
20203405478288
20193435140098
20182831429195
20172802529249
20162030020950
20151817318332
20141743217551
20131467614753
20121370913773
20111145511507
20101064910711
20091141811448
200887028733
200789198943
200688678878
200583368380
200461536172
200362526265
200256275646
200159185929
200055625577
199952795282
199846724678
199738043809
199630253026
199524472462
199422912293
199313951400
199211841188
1991742745
1990459461
1989318318
1988163163
19878989
19865959
19854545
19843636
19833738
19821818
19812425
19801919
197955
197822
197711

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