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 2021.2
Mutation totals210341323661
Missense/nonsense118631189904 (details)
Splicing1888427959 (details)
Regulatory38704974 (details)
Small deletions3111746323 (details)
Small insertions1295319497 (details)
Small indels29364154
Repeat variations 508658
Gross insertions/duplications 38855676
Complex rearrangements 18882396
Gross deletions 1566922120
Gene/sequence data
Genes878012772
cDNA reference sequences862112537

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 2021.2)
202123693
20201328147
20192427135
20188228203
2017935128006
20161772120228
20151667818156
20141524417458
20131449814691
20121341613731
20111125411461
20101051110651
20091134911444
200886408717
200788928939
200688478879
200582978376
200461376171
200362166265
200256185641
200158985927
200055515577
199952775285
199846684681
199738043806
199630283029
199524492462
199422872293
199313951401
199211821185
1991740744
1990457461
1989320320
1988160163
19878989
19865858
19854545
19843636
19833838
19821818
19812424
19801919
197955
197822
197711

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Copyright © Cardiff University 2020