List of variants in gene DGUOK studied for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 239

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HGVS	dbSNP	gnomAD frequency
NC_000002.12:g.73926778C>T	rs831526	0.98942
NM_080916.3(DGUOK):c.591+221T>C	rs7564379	0.69496
NM_080916.3(DGUOK):c.443+112A>G	rs940297	0.68875
NM_080916.3(DGUOK):c.143-181G>A	rs831527	0.55665
NM_080916.3(DGUOK):c.707+206G>A	rs2002711	0.45303
NM_080916.3(DGUOK):c.707+310T>C	rs4077241	0.09444
NM_080916.3(DGUOK):c.255+277T>A	rs59485700	0.07477
NM_080916.3(DGUOK):c.444-353A>G	rs79216512	0.05978
NM_080916.3(DGUOK):c.444-170G>A	rs11884185	0.05655
NM_080916.3(DGUOK):c.159G>A (p.Thr53=)	rs62641680	0.01745
NM_080916.3(DGUOK):c.423G>A (p.Glu141=)	rs1804599	0.01535
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)	rs74874677	0.01472
NM_080916.3(DGUOK):c.591+154G>A	rs76524689	0.01173
NM_080916.3(DGUOK):c.256-30A>G	rs191541507	0.00546
NM_080916.3(DGUOK):c.630G>A (p.Glu210=)	rs115206553	0.00075
NM_080916.3(DGUOK):c.708-3T>C	rs370071744	0.00061
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)	rs184770596	0.00044
NM_080916.3(DGUOK):c.256-7C>T	rs199531052	0.00031
NM_080916.3(DGUOK):c.591+12C>T	rs372829596	0.00030
NM_080916.3(DGUOK):c.199G>A (p.Val67Ile)	rs62641679	0.00029
NM_080916.3(DGUOK):c.664C>T (p.Leu222=)	rs375686551	0.00023
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)	rs144181978	0.00021
NM_080916.3(DGUOK):c.366G>C (p.Gln122His)	rs199645258	0.00016
NM_080916.3(DGUOK):c.444-62C>T	rs528587600	0.00016
NM_080916.3(DGUOK):c.592-9del	rs749290011	0.00012
NM_080916.3(DGUOK):c.-1G>A	rs754623273	0.00010
NM_080916.3(DGUOK):c.672C>T (p.Gly224=)	rs776350723	0.00006
NM_080916.3(DGUOK):c.758A>G (p.Asn253Ser)	rs200169027	0.00006
NM_080916.3(DGUOK):c.591G>A (p.Gln197=)	rs748597500	0.00005
NM_080916.3(DGUOK):c.649G>A (p.Ala217Thr)	rs577526451	0.00005
NM_080916.3(DGUOK):c.655C>T (p.Leu219=)	rs541642189	0.00005
NM_080916.3(DGUOK):c.697A>G (p.Lys233Glu)	rs371342464	0.00005
NM_080916.3(DGUOK):c.235C>T (p.Gln79Ter)	rs940941896	0.00004
NM_080916.3(DGUOK):c.444-12A>G	rs1316840479	0.00004
NM_080916.3(DGUOK):c.547C>T (p.Arg183Trp)	rs373204746	0.00004
NM_080916.3(DGUOK):c.792A>C (p.Glu264Asp)	rs745732447	0.00004
NM_080916.3(DGUOK):c.444-11C>G	rs536746349	0.00003
NM_080916.3(DGUOK):c.653A>G (p.Tyr218Cys)	rs137902450	0.00003
NM_080916.3(DGUOK):c.675A>G (p.Gln225=)	rs368154530	0.00003
NM_080916.3(DGUOK):c.206C>T (p.Thr69Ile)	rs560564448	0.00002
NM_080916.3(DGUOK):c.256-6C>T	rs568816337	0.00002
NM_080916.3(DGUOK):c.280A>G (p.Asn94Asp)	rs747937764	0.00002
NM_080916.3(DGUOK):c.302G>A (p.Arg101Gln)	rs1250828551	0.00002
NM_080916.3(DGUOK):c.314G>A (p.Arg105Gln)	rs776244110	0.00002
NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu)	rs141810774	0.00002
NM_080916.3(DGUOK):c.592-20G>T	rs372259679	0.00002
NM_080916.3(DGUOK):c.696C>T (p.His232=)	rs149649618	0.00002
NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser)	rs749464475	0.00002
NM_080916.3(DGUOK):c.771T>C (p.Ser257=)	rs1255769917	0.00002
NM_080916.3(DGUOK):c.143-4G>A	rs544350167	0.00001
NM_080916.3(DGUOK):c.189A>C (p.Pro63=)	rs772552133	0.00001
NM_080916.3(DGUOK):c.195G>A (p.Trp65Ter)	rs140307681	0.00001
NM_080916.3(DGUOK):c.256-20T>C	rs201519508	0.00001
NM_080916.3(DGUOK):c.265G>A (p.Ala89Thr)	rs138683121	0.00001
NM_080916.3(DGUOK):c.301C>T (p.Arg101Trp)	rs770571614	0.00001
NM_080916.3(DGUOK):c.370G>A (p.Glu124Lys)	rs777559041	0.00001
NM_080916.3(DGUOK):c.405G>A (p.Lys135=)	rs775871024	0.00001
NM_080916.3(DGUOK):c.425G>A (p.Arg142Lys)	rs104893631	0.00001
NM_080916.3(DGUOK):c.492C>T (p.Ile164=)	rs148915942	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
NM_080916.3(DGUOK):c.705G>A (p.Thr235=)	rs866403196	0.00001
NM_080916.3(DGUOK):c.757_759del (p.Asn253del)	rs775276142	0.00001
NM_080916.3(DGUOK):c.808-10C>G	rs758503693	0.00001
NC_000002.12:g.73926524del	rs35826941
NC_000002.12:g.73926524dup	rs35826941
NC_000002.12:g.73926872_73926886del	rs759288670
NM_080916.3(DGUOK):c.206_210dup	rs554820333
NM_080916.3(DGUOK):c.143-10T>G
NM_080916.3(DGUOK):c.143-13A>G
NM_080916.3(DGUOK):c.143-14T>C
NM_080916.3(DGUOK):c.143-15C>G
NM_080916.3(DGUOK):c.143-17T>C
NM_080916.3(DGUOK):c.143-1G>A
NM_080916.3(DGUOK):c.143-6T>C
NM_080916.3(DGUOK):c.143-7A>C
NM_080916.3(DGUOK):c.143-7A>G	rs1573526874
NM_080916.3(DGUOK):c.152A>G (p.Lys51Arg)	rs1064794680
NM_080916.3(DGUOK):c.162T>C (p.Phe54=)
NM_080916.3(DGUOK):c.171A>G (p.Leu57=)
NM_080916.3(DGUOK):c.174C>G (p.Leu58=)
NM_080916.3(DGUOK):c.176C>G (p.Thr59Arg)	rs144907403
NM_080916.3(DGUOK):c.176C>T (p.Thr59Met)	rs144907403
NM_080916.3(DGUOK):c.177G>A (p.Thr59=)
NM_080916.3(DGUOK):c.197A>T (p.His66Leu)
NM_080916.3(DGUOK):c.198C>A (p.His66Gln)	rs138034585
NM_080916.3(DGUOK):c.198C>T (p.His66=)
NM_080916.3(DGUOK):c.1A>G (p.Met1Val)
NM_080916.3(DGUOK):c.213T>G (p.Pro71=)
NM_080916.3(DGUOK):c.218C>G (p.Ala73Gly)
NM_080916.3(DGUOK):c.225G>A (p.Trp75Ter)
NM_080916.3(DGUOK):c.226C>T (p.Gln76Ter)
NM_080916.3(DGUOK):c.240T>C (p.Ala80=)
NM_080916.3(DGUOK):c.243T>A (p.Ala81=)	rs200731234
NM_080916.3(DGUOK):c.246C>A (p.Gly82=)
NM_080916.3(DGUOK):c.254_255delinsT (p.Lys85fs)	rs1558650352
NM_080916.3(DGUOK):c.255+12G>A
NM_080916.3(DGUOK):c.255+19_255+21del
NM_080916.3(DGUOK):c.255+20G>C
NM_080916.3(DGUOK):c.255+2T>A	rs1553401827
NM_080916.3(DGUOK):c.255+8T>G
NM_080916.3(DGUOK):c.255del (p.Ala86fs)	rs886037613
NM_080916.3(DGUOK):c.256-13C>A
NM_080916.3(DGUOK):c.256-14del	rs1259926103
NM_080916.3(DGUOK):c.256-17T>G
NM_080916.3(DGUOK):c.256-18T>C
NM_080916.3(DGUOK):c.256-190A>C	rs1523828
NM_080916.3(DGUOK):c.256-19T>C
NM_080916.3(DGUOK):c.256-3T>C
NM_080916.3(DGUOK):c.256-4C>G
NM_080916.3(DGUOK):c.256-4del
NM_080916.3(DGUOK):c.256-8C>T
NM_080916.3(DGUOK):c.257C>A (p.Ala86Asp)
NM_080916.3(DGUOK):c.261C>T (p.Cys87=)
NM_080916.3(DGUOK):c.270A>G (p.Gln90=)
NM_080916.3(DGUOK):c.275T>A (p.Leu92His)	rs982717858
NM_080916.3(DGUOK):c.283T>C (p.Leu95=)
NM_080916.3(DGUOK):c.290A>G (p.Asp97Gly)
NM_080916.3(DGUOK):c.297G>A (p.Met99Ile)
NM_080916.3(DGUOK):c.313C>T (p.Arg105Ter)	rs104893630
NM_080916.3(DGUOK):c.318G>A (p.Trp106Ter)
NM_080916.3(DGUOK):c.319T>C (p.Ser107Pro)	rs2104944559
NM_080916.3(DGUOK):c.327A>G (p.Thr109=)
NM_080916.3(DGUOK):c.336A>G (p.Thr112=)
NM_080916.3(DGUOK):c.343T>C (p.Phe115Leu)
NM_080916.3(DGUOK):c.352C>T (p.Arg118Cys)	rs767604650
NM_080916.3(DGUOK):c.353G>A (p.Arg118His)	rs150678946
NM_080916.3(DGUOK):c.354C>T (p.Arg118=)
NM_080916.3(DGUOK):c.356dup (p.Lys120fs)	rs1553403687
NM_080916.3(DGUOK):c.361G>C (p.Val121Leu)	rs756158114
NM_080916.3(DGUOK):c.367C>T (p.Leu123=)
NM_080916.3(DGUOK):c.372G>A (p.Glu124=)
NM_080916.3(DGUOK):c.387A>G (p.Lys129=)
NM_080916.3(DGUOK):c.388C>T (p.Leu130Phe)
NM_080916.3(DGUOK):c.394C>G (p.Gln132Glu)
NM_080916.3(DGUOK):c.411A>G (p.Val137=)
NM_080916.3(DGUOK):c.414G>A (p.Gln138=)
NM_080916.3(DGUOK):c.426G>A (p.Arg142=)
NM_080916.3(DGUOK):c.436A>G (p.Ser146Gly)
NM_080916.3(DGUOK):c.443+10C>T
NM_080916.3(DGUOK):c.443+16C>G
NM_080916.3(DGUOK):c.443+1G>A	rs1057524864
NM_080916.3(DGUOK):c.443+9C>T
NM_080916.3(DGUOK):c.444-10T>A
NM_080916.3(DGUOK):c.444-11C>T
NM_080916.3(DGUOK):c.444-19C>T	rs2104962534
NM_080916.3(DGUOK):c.444-4C>T
NM_080916.3(DGUOK):c.444-62C>A	rs528587600
NM_080916.3(DGUOK):c.444-62C>G
NM_080916.3(DGUOK):c.444-75TC[9]	rs140339626
NM_080916.3(DGUOK):c.444-7C>A
NM_080916.3(DGUOK):c.444-7C>T
NM_080916.3(DGUOK):c.450C>T (p.Ile150=)
NM_080916.3(DGUOK):c.453T>C (p.Phe151=)
NM_080916.3(DGUOK):c.463C>A (p.Leu155Ile)
NM_080916.3(DGUOK):c.466T>C (p.Phe156Leu)
NM_080916.3(DGUOK):c.468T>C (p.Phe156=)
NM_080916.3(DGUOK):c.476_477del (p.Gly159fs)
NM_080916.3(DGUOK):c.495G>A (p.Glu165=)
NM_080916.3(DGUOK):c.498G>A (p.Trp166Ter)
NM_080916.3(DGUOK):c.501T>C (p.His167=)
NM_080916.3(DGUOK):c.528C>G (p.Leu176=)
NM_080916.3(DGUOK):c.545G>C (p.Ser182Thr)
NM_080916.3(DGUOK):c.549G>T (p.Arg183=)	rs1558661806
NM_080916.3(DGUOK):c.559C>T (p.His187Tyr)	rs1558661819
NM_080916.3(DGUOK):c.566T>C (p.Phe189Ser)
NM_080916.3(DGUOK):c.574C>T (p.Leu192Phe)
NM_080916.3(DGUOK):c.576C>G (p.Leu192=)
NM_080916.3(DGUOK):c.584C>T (p.Ser195Phe)
NM_080916.3(DGUOK):c.589del (p.Gln197fs)
NM_080916.3(DGUOK):c.591+11A>G
NM_080916.3(DGUOK):c.591+18A>G
NM_080916.3(DGUOK):c.591+1G>A
NM_080916.3(DGUOK):c.591+20C>G
NM_080916.3(DGUOK):c.591+7C>T
NM_080916.3(DGUOK):c.592-15G>A
NM_080916.3(DGUOK):c.592-17T>C
NM_080916.3(DGUOK):c.592-26A>G
NM_080916.3(DGUOK):c.592-4_592-3del
NM_080916.3(DGUOK):c.592-7C>G
NM_080916.3(DGUOK):c.592-9G>A
NM_080916.3(DGUOK):c.592-9G>C
NM_080916.3(DGUOK):c.592-9_592-6dup
NM_080916.3(DGUOK):c.592G>T (p.Val198Phe)	rs1428988311
NM_080916.3(DGUOK):c.596G>C (p.Cys199Ser)
NM_080916.3(DGUOK):c.601A>G (p.Lys201Glu)	rs1558668852
NM_080916.3(DGUOK):c.601_602del (p.Lys201fs)
NM_080916.3(DGUOK):c.604A>G (p.Arg202Gly)
NM_080916.3(DGUOK):c.605_606del (p.Arg202fs)	rs863223949
NM_080916.3(DGUOK):c.609G>A (p.Leu203=)
NM_080916.3(DGUOK):c.609_610del (p.Tyr204fs)	rs886037615
NM_080916.3(DGUOK):c.618G>A (p.Arg206=)
NM_080916.3(DGUOK):c.627G>A (p.Glu209=)
NM_080916.3(DGUOK):c.636A>G (p.Lys212=)
NM_080916.3(DGUOK):c.658G>T (p.Glu220Ter)	rs863223948
NM_080916.3(DGUOK):c.663G>T (p.Gln221His)	rs957798169
NM_080916.3(DGUOK):c.672C>G (p.Gly224=)
NM_080916.3(DGUOK):c.677A>G (p.His226Arg)
NM_080916.3(DGUOK):c.678C>T (p.His226=)
NM_080916.3(DGUOK):c.688C>T (p.Leu230Phe)	rs1347001625
NM_080916.3(DGUOK):c.700A>C (p.Thr234Pro)
NM_080916.3(DGUOK):c.704C>G (p.Thr235Arg)	rs375774789
NM_080916.3(DGUOK):c.704C>T (p.Thr235Met)	rs375774789
NM_080916.3(DGUOK):c.707+12G>A
NM_080916.3(DGUOK):c.707+17_707+19del
NM_080916.3(DGUOK):c.707+1G>A	rs1683179791
NM_080916.3(DGUOK):c.707+20T>A
NM_080916.3(DGUOK):c.707+3_707+6del
NM_080916.3(DGUOK):c.707A>G (p.Lys236Arg)	rs2105001965
NM_080916.3(DGUOK):c.708-10C>T
NM_080916.3(DGUOK):c.708-11G>A
NM_080916.3(DGUOK):c.708-12C>T
NM_080916.3(DGUOK):c.708-17G>A
NM_080916.3(DGUOK):c.708-17G>T
NM_080916.3(DGUOK):c.708-18C>T
NM_080916.3(DGUOK):c.708-19A>C
NM_080916.3(DGUOK):c.708-2A>G
NM_080916.3(DGUOK):c.708-4A>G
NM_080916.3(DGUOK):c.711C>T (p.Leu237=)
NM_080916.3(DGUOK):c.723T>G (p.Ala241=)
NM_080916.3(DGUOK):c.735T>C (p.Ile245=)
NM_080916.3(DGUOK):c.737C>G (p.Pro246Arg)
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter)	rs763706988
NM_080916.3(DGUOK):c.772G>A (p.Glu258Lys)	rs868377068
NM_080916.3(DGUOK):c.787_789del (p.Gln263del)
NM_080916.3(DGUOK):c.796C>T (p.Leu266Phe)
NM_080916.3(DGUOK):c.797T>G (p.Leu266Arg)	rs886037846
NM_080916.3(DGUOK):c.807+11C>T
NM_080916.3(DGUOK):c.807+14del
NM_080916.3(DGUOK):c.807+19C>T
NM_080916.3(DGUOK):c.807+20C>G
NM_080916.3(DGUOK):c.808-10C>T
NM_080916.3(DGUOK):c.808-15T>G
NM_080916.3(DGUOK):c.808-19G>C
NM_080916.3(DGUOK):c.808-20T>C
NM_080916.3(DGUOK):c.808-6C>G
NM_080916.3(DGUOK):c.810A>G (p.Val270=)
NM_080916.3(DGUOK):c.827A>C (p.Asn276Thr)
NM_080918.3(DGUOK):c.444-907AAGT[3]

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