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