HGMD Statistics

As of 18/01/2006, HGMD contains 49773 mutations in 1958 genes and provides 1803 reference cDNA sequences

Number of entries by mutation type

Mutation type
No. of entries

Micro-lesions -
Missense/nonsense 28563
Splicing 4722
Regulatory 607
Small deletions 8234
Small insertions 3298
Small indels 476
Gross lesions -
Repeat variations 126
Gross insertions & duplications 443
Complex rearrangements (including inversions) 583
Gross deletions 2721
Total 49773

Statistics inclusive of data not yet publicly available can be found here

Number of entries by year of publication

Year
Number of entries

up to 1985 134
1986 53
1987 79
1988 142
1989 287
1990 417
1991 713
1992 1160
1993 1344
1994 2319
1995 2353
1996 2983
1997 3624
1998 4512
1999 5154
2000 5296
2001 5605
2002 5028
2003 5101
2004 3462
2005 7

Mutation type	No. of entries
Micro-lesions -
Missense/nonsense	28563
Splicing	4722
Regulatory	607
Small deletions	8234
Small insertions	3298
Small indels	476
Gross lesions -
Repeat variations	126
Gross insertions & duplications	443
Complex rearrangements (including inversions)	583
Gross deletions	2721
Total	49773

Year	Number of entries
up to 1985	134
1986	53
1987	79
1988	142
1989	287
1990	417
1991	713
1992	1160
1993	1344
1994	2319
1995	2353
1996	2983
1997	3624
1998	4512
1999	5154
2000	5296
2001	5605
2002	5028
2003	5101
2004	3462
2005	7