ClinVar Miner

List of variants in gene DGUOK reported as pathogenic for not provided

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_080916.3(DGUOK):c.591G>A (p.Gln197=) rs748597500 0.00005
NM_080916.3(DGUOK):c.235C>T (p.Gln79Ter) rs940941896 0.00004
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser) rs749464475 0.00002
NM_080916.3(DGUOK):c.195G>A (p.Trp65Ter) rs140307681 0.00001
NM_080916.3(DGUOK):c.425G>A (p.Arg142Lys) rs104893631 0.00001
NM_080916.3(DGUOK):c.494A>T (p.Glu165Val) rs770950831 0.00001
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) rs104893632 0.00001
NC_000002.11:g.(?_74166017)_(74166169_?)del
NC_000002.11:g.(?_74173826)_(74177879_?)del
NC_000002.11:g.(?_74177650)_(74185863_?)del
NC_000002.11:g.(?_74184232)_(74185863_?)del
NC_000002.11:g.(?_74185253)_(74185863_?)del
NM_080916.3(DGUOK):c.1A>G (p.Met1Val)
NM_080916.3(DGUOK):c.225G>A (p.Trp75Ter)
NM_080916.3(DGUOK):c.226C>T (p.Gln76Ter)
NM_080916.3(DGUOK):c.254_255delinsT (p.Lys85fs) rs1558650352
NM_080916.3(DGUOK):c.255del (p.Ala86fs) rs886037613
NM_080916.3(DGUOK):c.313C>T (p.Arg105Ter) rs104893630
NM_080916.3(DGUOK):c.318G>A (p.Trp106Ter)
NM_080916.3(DGUOK):c.356dup (p.Lys120fs) rs1553403687
NM_080916.3(DGUOK):c.358A>T (p.Lys120Ter)
NM_080916.3(DGUOK):c.443+1G>A rs1057524864
NM_080916.3(DGUOK):c.476_477del (p.Gly159fs)
NM_080916.3(DGUOK):c.498G>A (p.Trp166Ter)
NM_080916.3(DGUOK):c.589del (p.Gln197fs)
NM_080916.3(DGUOK):c.592-4_592-3del
NM_080916.3(DGUOK):c.601_602del (p.Lys201fs)
NM_080916.3(DGUOK):c.605_606del (p.Arg202fs) rs863223949
NM_080916.3(DGUOK):c.609_610del (p.Tyr204fs) rs886037615
NM_080916.3(DGUOK):c.658G>T (p.Glu220Ter) rs863223948
NM_080916.3(DGUOK):c.677A>G (p.His226Arg)
NM_080916.3(DGUOK):c.707+3_707+6del
NM_080916.3(DGUOK):c.746del (p.Val249fs)
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) rs763706988

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