ClinVar Miner

List of variants reported as likely pathogenic by Section for Clinical Neurogenetics, University of Tübingen

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Total variants: 55
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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_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
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_019026.6(TMCO1):c.463C>T (p.Arg155Ter) rs765379963 0.00002
NM_001351169.2(NT5C2):c.430C>T (p.Arg144Ter) rs764453448 0.00001
NM_002529.4(NTRK1):c.2170G>A (p.Gly724Ser) rs763122825 0.00001
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_017679.5(BCAS3):c.1655C>T (p.Pro552Leu) rs754857276 0.00001
NM_017679.5(BCAS3):c.1684G>A (p.Gly562Arg) rs772813265 0.00001
NC_000017.11:g.60921178_61232194del
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) rs201415996
NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter) rs1176071790
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) rs745744124
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
NM_004523.4(KIF11):c.381G>A (p.Trp127Ter) rs1589590737
NM_014252.4(SLC25A15):c.446del (p.Ser149fs) rs1566123619
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs) rs769429967
NM_017679.5(BCAS3):c.1133del (p.Val378fs) rs2145247321
NM_017679.5(BCAS3):c.1457C>G (p.Ser486Ter) rs2145432917
NM_017679.5(BCAS3):c.2029+4_2029+7del rs2145620702
NM_017679.5(BCAS3):c.2182C>T (p.Gln728Ter) rs2143487816
NM_017679.5(BCAS3):c.2425G>C (p.Gly809Arg) rs2143538802
NM_017679.5(BCAS3):c.337C>T (p.Gln113Ter) rs2144260660
NM_017679.5(BCAS3):c.530del (p.Met177fs) rs2144887794
NM_017679.5(BCAS3):c.576C>A (p.Cys192Ter) rs761069193
NM_017679.5(BCAS3):c.726T>G (p.Tyr242Ter) rs2145000036
NM_017679.5(BCAS3):c.73C>T (p.Gln25Ter) rs2143782841
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) rs1574787779
NM_022834.5(VWA1):c.186_209del (p.Pro63_Ala70del) rs1638559065
NM_022834.5(VWA1):c.252del (p.Glu85fs) rs767263669
NM_022834.5(VWA1):c.62_71del (p.Gly21fs) rs749383814
NM_022834.5(VWA1):c.62_71dup (p.Gly25fs) rs749383814
NM_022834.5(VWA1):c.879del (p.Arg293fs) rs746212067
NM_022834.5(VWA1):c.94C>T (p.Arg32Ter) rs762573767
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_181882.3(PRX):c.27+1G>T rs146342432

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