In total: 4,588,638 variants in 1,779,308 individuals in 27 LOVD installations. |
https://databases.lovd.nl/shared/ |
LOVD 3.0-28d |
23030 genes |
2337725 variants |
Global Variome shared LOVD |
A1BG,A1BG-AS1,A1CF,A2LD1,A2M,A2M-AS1,... |
388576 unique |
https://databases.lovd.nl/whole_genome/ |
LOVD 3.0-20a |
22002 genes |
1998175 variants |
Whole genome datasets |
A1BG,A1BG-AS1,A1CF,A2M,A2M-AS1,A2ML1,... |
1998135 unique |
https://ab-openlab.csir.res.in/mitolsdb/ |
LOVD 2.0-35 |
37 genes |
112662 variants |
MitoLSDB |
MTATP6,MTATP8,MTCO1,MTCO2,MTCO3,MTCYB... |
4660 unique |
http://ithaka.rrp.demokritos.gr/CanVaS/ |
LOVD 3.0-23 |
98 genes |
36951 variants |
CanVaS - A Greek Cancer Patient Genetic Variation Resource |
AIP,ALK,APC,ATM,BAP1,BARD1,BLM,BMPR1A... |
8213 unique |
http://HCI-LOVD.hci.utah.edu |
LOVD 2.0-33 |
8 genes |
26167 variants |
LOVD - human mismatch repair genes |
MLH1,MLH1_priors,MSH2,MSH2_priors,MSH... |
26167 unique |
https://grenada.lumc.nl/LOVD2/Usher_montpellier/ |
LOVD 2.0-37 |
20 genes |
23521 variants |
Retinal and hearing impairment genetic mutation database |
CDH23,CEACAM16,CERKL,CHM,CLDN14,CLRN1... |
3656 unique |
https://mseqdr.org/MITO/ |
LOVD 3.0-21 |
1628 genes |
17310 variants |
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database |
AADAT,AARS2,AASS,ABAT,ABCA13,ABCA9,AB... |
15004 unique |
http://www.inc.gob.ar/sither/ |
LOVD 3.0-28 |
95 genes |
8899 variants |
|
AIP,AKT1,ALK,APC,ASS1,ATM,AXIN2,BAP1,... |
1277 unique |
http://www.sysbio.org.cn/NDDVD/ |
LOVD 3.0-20a |
289 genes |
6374 variants |
NDDVD - Neurodegenerative Diseases Variation Database |
ABCA7,ABCB1,ADCY5,ADORA1,ADRA1A,AFG3L... |
4959 unique |
http://rb1-lovd.d-lohmann.de/ |
LOVD 2.0-34 |
1 gene |
3438 variants |
rb1-lsdb |
RB1 |
1770 unique |
http://databases.lovd.nl/DNA_profiles/ |
LOVD 3.0-27 |
0 genes |
3414 variants |
LOVD - Leiden Open Variation Database |
|
667 unique |
http://www.kk.usm.my/LOVDv.3.0/ |
LOVD 3.0-27 |
311 genes |
3069 variants |
Malaysian Node of the Human Variome Project Database |
ABCA1,ABCA12,ABCA5,ABCB1,ABCC2,ABCD1,... |
1602 unique |
http://lovd.bx.psu.edu/ |
LOVD 2.0-38 |
37 genes |
2369 variants |
The Globin Gene Server |
ALOX5AP,AQP9,ARG2,ASS1,ATRX,BCL11A,CN... |
2308 unique |
http://lsdb.hgu.mrc.ac.uk/ |
LOVD 2.0-30 |
11 genes |
1903 variants |
MRC Human Genetics Unit LOVD at MRC IGMM |
MLYCD,NIPBL,OTX2,PAX6,RAB18,RAB3GAP1,... |
1111 unique |
http://hci-exlovd.hci.utah.edu/ |
LOVD 2.0-22 |
3 genes |
1822 variants |
Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified using a quantit |
BRCA1,BRCA1fx,BRCA2 |
1850 unique |
http://grenada.lumc.nl/LOVD2/VWF/ |
LOVD 2.0-37 |
1 gene |
1741 variants |
EAHAD Coagulation Factor Variant Databases |
VWF |
715 unique |
http://hgddatabase.cvtisr.sk/ |
LOVD 2.0-38 |
1 gene |
1421 variants |
HGD mutation database |
HGD |
254 unique |
https://coppolalab.ucla.edu/lovd_gift/ |
LOVD 3.0-21 |
11 genes |
634 variants |
Coppola Lab - GIFT Variant Database |
APP,C9orf72,CHMP2B,FUS,GRN,MAPT,PSEN1... |
585 unique |
http://www.dbagenes.unito.it/ |
LOVD 2.0-38 |
13 genes |
399 variants |
Diamond-Blackfan Anemia |
GATA1,RPL11,RPL15,RPL26,RPL31,RPL35A,... |
256 unique |
http://dna2.leeds.ac.uk/LOVD/ |
LOVD 3.0-13 |
20 genes |
366 variants |
LOVD - Leiden Open Variation Database |
ACPT,AMBN,AMELX,AMTN,C4orf26,COL17A1,... |
232 unique |
http://www.genetik-regensburg.de/LOVDv.3.0/ |
LOVD 3.0-16 |
58 genes |
117 variants |
Labor Staber Humangenetik |
ABCC8,AIP,ATM,ATP7B,ATXN3,BAP1,BLK,BR... |
112 unique |
http://dna2.leeds.ac.uk/GRK1_LOVD/ |
LOVD 3.0-18 |
1 gene |
69 variants |
LOVD - Leiden Open Variation Database |
GRK1 |
28 unique |
http://www.icp.ucl.ac.be/vikkula/CLPdb/ |
LOVD 2.0-36 |
1 gene |
54 variants |
Cleft Lip and Palate Mutation Database |
IRF6 |
44 unique |
https://grenada.lumc.nl/LOVD2/TCS/ |
LOVD 2.0-37 |
2 genes |
26 variants |
Treacher Collins syndrome variant database |
POLR1C,POLR1D |
22 unique |
http://chromium.lovd.nl/LOVD2/growth/ |
LOVD 2.0-37 |
1 gene |
12 variants |
LOVD - Leiden Open Variation Database |
IGF1 |
5 unique |
http://l3.d-lohmann.de/ |
LOVD 3.0-18 |
1 gene |
0 variants |
Essen-Eye-Cancer-Genetics |
RB1 |
0 unique |
http://urugenomes.org/lovd/ |
LOVD 3.0-21 |
1 gene |
0 variants |
LOVD - Urugenomes |
DDX11L1 |
0 unique |