HGMD
The Human Gene Mutation Database

at the Institute of Medical Genetics in Cardiff

QIAGEN
Symbol:

Number of entries in HGMD by type

Data typeNumber of entries
(public release for academic/non-profits only)
Number of entries
HGMD Professional release 2021.4
Mutation totals234987352731
Missense/nonsense133859209495 (details)
Splicing2087930191 (details)
Regulatory41495117 (details)
Small deletions3448849872 (details)
Small insertions1448721113 (details)
Small indels32044370
Repeat variations 516660
Gross insertions/duplications 42855964
Complex rearrangements 19932501
Gross deletions 1712723448
Gene/sequence data
Genes1011114470
cDNA reference sequences993714239

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 2021.4)
2021618825
20203434348
20193334370
2018891828347
20172119928119
20161937820356
20151695218219
20141677817478
20131453214703
20121357613737
20111133811466
20101055510655
20091140011444
200886668720
200789078940
200688548880
200583138377
200461386171
200362216265
200256245641
200159005927
200055575577
199952775283
199846714681
199738043806
199630283029
199524492462
199422872294
199313961401
199211821185
1991741744
1990457461
1989320321
1988161163
19878989
19865859
19854545
19843636
19833838
19821818
19812424
19801919
197955
197822
197711

Designed by P.D.Stenson HGMD®
Copyright © Cardiff University 2020