LOVD - Leiden Open Variation Database
LOVD v.2.0 Build 24 [
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Variant listing based on patient origin
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ABCA13 (ATP-binding cassette, sub-family A, member 13)
ARG1 (Arginase 1)
ASL (ArgininoSuccinate lyase)
ASS1 (ArgininoSuccinate Synthetase 1)
ATM (Ataxia Telangiectasia Mutated)
ATP1A2 (ATPase, Na+/K+ transporting, alpha 2 (+) polype...)
B3GALTL (Beta 1,3-GALactosylTransferase-Like)
CACNA1A (Calcium channel, voltage-dependent, P/Q type, a...)
CACNA1S (Calcium channel, voltage-dependent, L type, alp...)
CDKN2A (Cyclin-Dependent Kinase inhibitor 2A)
CLCN1 (Chloride channel 1, skeletal muscle)
COL4A5 (Collagen, type IV, alpha 5)
CPS1 (Carbamoyl-Phosphate Synthetase 1)
CREBBP (CREB Binding Protein)
EP300 (E1A binding protein p300)
ESCO2 (Establishment of Cohesion 1 homolog 2)
GAA (Glucosidase, alpha, acid (Pompe disease))
GLRA1 (GLycine Receptor, Alpha 1)
GNAS (GNAS complex locus)
HGSNAT (Heparan-alpha-glucosaminide N-acetyltransferase)
LRP5 (Low density lipoprotein Receptor-related Protein 5)
NAGS (N-AcetylGlutamate Synthase)
NBN (nibrin)
NOTCH3 (Notch homolog 3)
NR0B1 (Nuclear Receptor subfamily 0, group B, member 1...)
NSD1 (Nuclear receptor binding SET Domain protein 1)
OTC (Ornithine CarbamoylTransferase)
RNF135 (Ring Finger protein 135)
SCN4A (Sodium channel, voltage-gated, type IV, alpha s...)
SLC25A13 (Solute Carrier family 25 member 13)
SLC25A15 (Solute Carrier family 25 member 15)
SOST (Sclerosteosis)
TCF4 (TransCription Factor 4)
TREX1 (Three prime repair exonuclease 1)
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LOVD v.2.0
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