ClinVar Miner

List of variants studied for Epileptic encephalopathy by Section for Clinical Neurogenetics, University of Tübingen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter) rs200059198 0.00012
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_003359.4(UGDH):c.131C>T (p.Ala44Val) rs749975104 0.00004
NM_003359.4(UGDH):c.1177C>T (p.Arg393Trp) rs113094436 0.00002
NM_003359.4(UGDH):c.1328G>A (p.Arg443His) rs1053767552 0.00002
NM_003359.4(UGDH):c.1228G>T (p.Ala410Ser) rs770456604 0.00001
NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys) rs369608407 0.00001
NM_003359.4(UGDH):c.764T>C (p.Ile255Thr) rs1186496501 0.00001
NM_003359.4(UGDH):c.907G>A (p.Val303Ile) rs1578265068 0.00001
NM_003359.4(UGDH):c.1068T>G (p.Tyr356Ter) rs1260191836
NM_003359.4(UGDH):c.1100A>G (p.Tyr367Cys) rs1578264574
NM_003359.4(UGDH):c.125T>C (p.Ile42Thr) rs1578282133
NM_003359.4(UGDH):c.1324C>T (p.Arg442Trp) rs201894374
NM_003359.4(UGDH):c.1346A>G (p.His449Arg) rs779324355
NM_003359.4(UGDH):c.214T>G (p.Ser72Ala) rs769243823
NM_003359.4(UGDH):c.244G>A (p.Ala82Thr) rs1578274054
NM_003359.4(UGDH):c.374T>C (p.Ile125Thr) rs1578270476
NM_003359.4(UGDH):c.463C>T (p.Gln155Ter) rs1381665298
NM_003359.4(UGDH):c.523C>G (p.Pro175Ala) rs756467468
NM_003359.4(UGDH):c.651G>C (p.Glu217Asp) rs1578269761
NM_003359.4(UGDH):c.70G>A (p.Ala24Thr) rs1306655122
NM_003359.4(UGDH):c.811G>C (p.Gly271Arg) rs1578269200
NM_003359.4(UGDH):c.916A>G (p.Met306Val) rs1578265048

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.