HGMD, CardiffThe Human Gene Mutation Database
at the Institute of Medical Genetics in Cardiff
Copyright © Cardiff University 2011. All rights reserved
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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 2011.4)
Mutation dataTOTAL (public release) 85840TOTAL (HGMD Professional 2011.4) 120004
Missense/nonsense4863366902 (details)
Splicing813111220 (details)
Regulatory13952245 (details)
Small deletions1368018799 (details)
Small insertions55997719 (details)
Small indels12431783
Repeat variations 260377
Gross insertions/duplications 10011757
Complex rearrangements 7371170
Gross deletions 51618032
Gene/sequence data
Genes32534411
cDNA reference sequences31954320

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 2011.4)
201204
2011759342
201020410121
200932011249
200864688415
200781418630
200683238686
200578418265
200459166056
200359856120
200254715562
200158445908
200054785551
199952325274
199846354672
199737713806
199630033039
199523922430
199422772289
199313881400
199211701183
1991737747
1990448455
1989298310
1988150160
19878388
19865359
19853745
19843035
19832338
19821517
19811423
19801318
197955
197802

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