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HGMD-Functionality

Mutations Type Number of entries
Micro Lesions
Missense / Nonsense 159,705
Splicing 23,868
Regulatory 4,575
Small Deletions 39,822
Small Insertions / Duplications 16,881
Small Indels 3,652
Gross Lesions
Gross Deletions 19,491
Gross Insertions / Duplications 4,945
Complex Rearrangements 2,231
Repeat Variations 546
Total 275,716

 

*Statistics as of December 2019