DMuDB Statistics
DMuDB Submission Statistics
Below are the statistics surrounding the Diagnostic Mutation Database project.
Searchable Data as of February 2012
| Gene | Variants | Gene | Variants |
| ALMS1 | 4 |
MFN2
|
124 |
|
APC
|
781
|
MLH1
|
670
|
| ASPA | 53 | MPZ | 65 |
| BMPR1A | 10 |
MSH2
|
708 |
| BRAF | 6 | MSH6 | 641 |
|
BRCA1
|
16,916
|
MYBPC3 |
1
|
|
BRCA2
|
13,855
|
MYH7 |
446
|
|
CFTR
|
253
|
NEFL
|
10
|
| CHD7 | 58 |
NF1
|
1,665
|
| C-Kit/Kit | 64 | NF2 |
572
|
| COL1A1 | 11 | NSD1 |
39
|
| COL1A2 | 10 | OCRL |
97
|
| DSG2 | 15 |
OPA1
|
48 |
| DSP | 49 | PDGFRA | 17 |
|
Dystrophin
|
203
|
PKP2 | 56 |
| EGFR | 1 | PMP22 | 50 |
|
EGR2
|
6
|
PMS2 |
5
|
| EPCAM | 1 | PRX | 41 |
| EXT1 | 104 | RB1 | 434 |
| FBN1 | 804 | RET | 1 |
| GFAP | 34 |
RPGR
|
120
|
|
GJB1
|
183 | RYR2 | 20 |
| GJB2 | 179 | SCN5A | 50 |
| HSPB1 | 3 | SDHB |
110
|
|
IGHMBP2
|
5 | SDHC | 4 |
| KCNE1 | 11 | SDHD |
41
|
| KCNE2 | 3 | SMAD4 |
12
|
| KCNH2 | 69 |
SPRED1
|
43 |
| KCNQ1 | 50 |
TP53
|
22
|
| KRAS | 26 |
TSC1
|
63
|
| LDLR | 521 | TSC2 |
149
|
|
MECP2
|
22
|
VHL
|
170
|
|
MEN1
|
167
|
||
| Total | 40,971 |