ClinVar Miner

List of variants in gene DGUOK reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
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.256-7C>T rs199531052 0.00031
NM_080916.3(DGUOK):c.591+12C>T rs372829596 0.00030
NM_080916.3(DGUOK):c.664C>T (p.Leu222=) rs375686551 0.00023
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.655C>T (p.Leu219=) rs541642189 0.00005
NM_080916.3(DGUOK):c.444-12A>G rs1316840479 0.00004
NM_080916.3(DGUOK):c.675A>G (p.Gln225=) rs368154530 0.00003
NM_080916.3(DGUOK):c.256-6C>T rs568816337 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.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.256-20T>C rs201519508 0.00001
NM_080916.3(DGUOK):c.405G>A (p.Lys135=) rs775871024 0.00001
NM_080916.3(DGUOK):c.492C>T (p.Ile164=) rs148915942 0.00001
NM_080916.3(DGUOK):c.705G>A (p.Thr235=) rs866403196 0.00001
NM_080916.3(DGUOK):c.808-10C>G rs758503693 0.00001
NC_000002.12:g.73926524dup rs35826941
NM_080916.3(DGUOK):c.*206_*210dup rs554820333
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.143-7A>C
NM_080916.3(DGUOK):c.143-7A>G rs1573526874
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.177G>A (p.Thr59=)
NM_080916.3(DGUOK):c.198C>T (p.His66=)
NM_080916.3(DGUOK):c.213T>G (p.Pro71=)
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.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+8T>G
NM_080916.3(DGUOK):c.256-13C>A
NM_080916.3(DGUOK):c.256-17T>G
NM_080916.3(DGUOK):c.256-18T>C
NM_080916.3(DGUOK):c.256-19T>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.261C>T (p.Cys87=)
NM_080916.3(DGUOK):c.270A>G (p.Gln90=)
NM_080916.3(DGUOK):c.283T>C (p.Leu95=)
NM_080916.3(DGUOK):c.327A>G (p.Thr109=)
NM_080916.3(DGUOK):c.336A>G (p.Thr112=)
NM_080916.3(DGUOK):c.354C>T (p.Arg118=)
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.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.443+10C>T
NM_080916.3(DGUOK):c.443+16C>G
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>G
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.468T>C (p.Phe156=)
NM_080916.3(DGUOK):c.495G>A (p.Glu165=)
NM_080916.3(DGUOK):c.501T>C (p.His167=)
NM_080916.3(DGUOK):c.528C>G (p.Leu176=)
NM_080916.3(DGUOK):c.576C>G (p.Leu192=)
NM_080916.3(DGUOK):c.591+11A>G
NM_080916.3(DGUOK):c.591+18A>G
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.592-7C>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.609G>A (p.Leu203=)
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.672C>G (p.Gly224=)
NM_080916.3(DGUOK):c.678C>T (p.His226=)
NM_080916.3(DGUOK):c.707+12G>A
NM_080916.3(DGUOK):c.707+17_707+19del
NM_080916.3(DGUOK):c.707+20T>A
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.708-4A>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.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=)

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