What's in DMuDB?
DMuDB content
Below is a table listing the genes and number of submitted variant reports contained within DMuDB. Please note variants are not necessarily unique.
Searchable Data as of March 2014
Gene | Variants | Gene | Variants |
ACTA1 | 4 | MECP2 | 79 |
AIP | 6 | MEN1 | 228 |
AMLS1 | 85 | MESP2 | 11 |
APC | 920 | MFN2 | 128 |
ARSE | 4 | MSK1 | 10 |
ASPA | 53 | MLH1 | 935 |
ASS1 | 5 | MPZ | 73 |
ATP7A | 42 | MSH2 | 1,123 |
BMPR1A | 10 | MSH6 | 1,151 |
BRAF
|
6
|
MUTYH |
4
|
BRCA1 | 17,739 | MVK | 1 |
BRCA2 | 14,854 | MYBPC3 | 646 |
BSCL2 | 2 | MYH7 | 679 |
CDH1 | 7 | MYL2 | 168 |
CDK4 | 4 | NDP | 1 |
CDKN2a
|
115
|
NEFL |
12
|
CEP290 | 1 | NF1 | 1,662 |
CFTR | 494 | NF2 | 572 |
CHD7 | 58 | NOTCH2 | 1 |
COL1A1 | 11 | NOTCH3 | 49 |
COL1A2 | 10 | NSD1 | 39 |
COL4A1 | 2 | OCRL | 97 |
CTSC | 6 | OPA1 | 130 |
CYP21A2 | 170 | PAH | 8 |
DCX | 17 | PDGFRA | 17 |
DLL3 |
24
|
PEX7 |
8
|
DSG2 | 15 | PHEX | 119 |
DSP |
42
|
PKHD1 |
86
|
DYNC1H1 | 2 | PKP2 | 56 |
Dystrophin | 202 | PMP22 | 52 |
EBP | 31 | PMS2 |
137
|
EGFR | 124 | PPARG | 1 |
EGR2 | 6 | PRX |
41
|
ENPP1 | 2 | PTEN |
1
|
EPCAM | 1 | RAB7A | 1 |
EXT1 | 104 | RB1 | 522 |
FAH | 63 | RET | 92 |
FBN1 | 806 |
RNASEH2A
|
1 |
FGF23 | 1 | RNASEH2B | 63 |
FMO3 | 2 | ROBO3 | 5 |
FOXP3 | 1 | RPGR | 120 |
FRMD7 | 67 | RPGRIPIL | 2 |
FZD4 | 3 | RYR1 | 166 |
GALNT3 | 2 | RYR2 | 20 |
GFAP | 39 | SALL1 | 7 |
GJB1
|
197 | SALL4 | 6 |
GJB2 | 645 | SAMHD1 | 3 |
GLDC | 117 | SCN5A | 50 |
GPR56 | 2 | SDH5 | 4 |
HES7 |
1
|
SDHB |
113
|
HEXB | 17 | SDHC | 4 |
HFE | 972 | SDHD | 45 |
HNF1A | 1,145 | SLC34A3 | 1 |
HNF4A | 391 | SLC5A1 | 2 |
HPGD | 7 | SMAD4 | 12 |
HSPB1 | 6 | SPRED1 | 43 |
HSPB8 | 2 | TBX5 | 84 |
IGHMBP2 | 5 | TNNI3 | 135 |
JAG1 | 108 | TNNT2 | 335 |
KCNE1 | 11 | TP53 | 75 |
KCNE2 | 3 | TPM1 |
72
|
KCNH2
|
69 | TREX1 | 51 |
KCNQ1 | 50 | TRPV4 | 1 |
KIF21A | 8 | TSC1 | 64 |
KIT | 64 | TSC2 |
146
|
KMT2D | 54 | TSHR | 1 |
KRAS | 26 | TUBA1A | 7 |
LDLR | 521 | TUBB3 | 2 |
LMNA | 41 | VHL | 180 |
LRP5 | 5 | ZMPSTE24 |
4
|
|
|||
Total | 51,393 |