ClinVar Miner

List of variants reported as uncertain significance for UDPglucose-4-epimerase deficiency

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_001008216.2(GALE):c.529-12C>T rs369293480 0.00169
NM_001008216.2(GALE):c.*178G>A rs1803612 0.00058
NM_001008216.2(GALE):c.611T>C (p.Ile204Thr) rs143924570 0.00053
NM_001008216.2(GALE):c.873+13_873+14insA rs765063773 0.00050
NM_001008216.2(GALE):c.369G>A (p.Gly123=) rs138148991 0.00029
NM_001008216.2(GALE):c.997C>A (p.Leu333Ile) rs199614710 0.00029
NM_001008216.2(GALE):c.423C>T (p.Tyr141=) rs138518245 0.00024
NM_001008216.2(GALE):c.447C>G (p.Pro149=) rs571625657 0.00017
NM_001008216.2(GALE):c.376A>G (p.Asn126Asp) rs771656737 0.00014
NM_001008216.2(GALE):c.140A>C (p.Glu47Ala) rs367768055 0.00013
NM_001008216.2(GALE):c.*192T>C rs576468712 0.00010
NM_001008216.2(GALE):c.647C>T (p.Ala216Val) rs542192037 0.00010
NM_001008216.2(GALE):c.755T>C (p.Ile252Thr) rs148834880 0.00009
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr) rs542486536 0.00006
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln) rs140878602 0.00005
NM_001008216.2(GALE):c.*69G>A rs543116262 0.00004
NM_001008216.2(GALE):c.-77+340G>C rs568182391 0.00004
NM_001008216.2(GALE):c.187G>C (p.Glu63Gln) rs370693766 0.00004
NM_001008216.2(GALE):c.319G>A (p.Val107Ile) rs770332379 0.00004
NM_001008216.2(GALE):c.794G>A (p.Arg265Gln) rs377362117 0.00004
NM_001008216.2(GALE):c.874-9G>A rs764448821 0.00004
NM_001008216.2(GALE):c.97G>A (p.Asp33Asn) rs727503945 0.00004
NM_001008216.2(GALE):c.652G>A (p.Gly218Arg) rs747453873 0.00003
NM_001008216.2(GALE):c.760G>A (p.Ala254Thr) rs926654478 0.00003
NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys) rs780393850 0.00003
NM_001008216.2(GALE):c.988+7G>A rs200182186 0.00003
NM_001008216.2(GALE):c.550C>T (p.Arg184Cys) rs767796512 0.00002
NM_001008216.2(GALE):c.602C>T (p.Pro201Leu) rs199904829 0.00002
NM_001008216.2(GALE):c.728A>C (p.His243Pro) rs143015594 0.00002
NM_001008216.2(GALE):c.809G>A (p.Gly270Asp) rs1226120841 0.00002
NM_001008216.2(GALE):c.812C>T (p.Thr271Met) rs756331486 0.00002
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu) rs775072430 0.00002
NM_001008216.2(GALE):c.979G>C (p.Asp327His) rs150326189 0.00002
NM_001008216.2(GALE):c.-77+168T>G rs924261949 0.00001
NM_001008216.2(GALE):c.1028G>C (p.Gly343Ala) rs918539847 0.00001
NM_001008216.2(GALE):c.192G>A (p.Glu64=) rs748354696 0.00001
NM_001008216.2(GALE):c.194T>C (p.Met65Thr) rs781426540 0.00001
NM_001008216.2(GALE):c.238-6C>T rs751079525 0.00001
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp) rs1243531358 0.00001
NM_001008216.2(GALE):c.382G>A (p.Val128Met) rs778887800 0.00001
NM_001008216.2(GALE):c.398C>T (p.Ala133Val) rs727503944 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001008216.2(GALE):c.538G>A (p.Ala180Thr) rs756590751 0.00001
NM_001008216.2(GALE):c.648G>A (p.Ala216=) rs144723215 0.00001
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp) rs764909409 0.00001
NM_001008216.2(GALE):c.659G>C (p.Arg220Pro) rs756780233 0.00001
NM_001008216.2(GALE):c.668T>C (p.Leu223Pro) rs1457875051 0.00001
NM_001008216.2(GALE):c.710G>A (p.Gly237Asp) rs756944736 0.00001
NM_001008216.2(GALE):c.899G>A (p.Arg300Gln) rs1342042645 0.00001
NM_001008216.2(GALE):c.955G>C (p.Gly319Arg) rs752384408 0.00001
NM_001008216.2(GALE):c.973G>A (p.Gly325Arg) rs770436207 0.00001
NM_001008216.2(GALE):c.*12T>G rs1638931716
NM_001008216.2(GALE):c.*158G>A rs1343467826
NM_001008216.2(GALE):c.*326_*328dup rs557214506
NM_001008216.2(GALE):c.*327A>T rs535702110
NM_001008216.2(GALE):c.-77+205C>G rs910285433
NM_001008216.2(GALE):c.1000T>C (p.Trp334Arg)
NM_001008216.2(GALE):c.1003C>T (p.Arg335Cys)
NM_001008216.2(GALE):c.110A>G (p.Asn37Ser)
NM_001008216.2(GALE):c.13G>T (p.Val5Leu) rs1570635677
NM_001008216.2(GALE):c.172C>T (p.Arg58Cys)
NM_001008216.2(GALE):c.224G>A (p.Arg75His)
NM_001008216.2(GALE):c.267G>A (p.Ala89=)
NM_001008216.2(GALE):c.286G>A (p.Glu96Lys)
NM_001008216.2(GALE):c.290C>T (p.Ser97Leu)
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly) rs28940883
NM_001008216.2(GALE):c.31G>T (p.Ala11Ser) rs754850112
NM_001008216.2(GALE):c.330C>T (p.Thr110=) rs377557637
NM_001008216.2(GALE):c.358A>G (p.Lys120Glu)
NM_001008216.2(GALE):c.409G>A (p.Gly137Arg) rs372715385
NM_001008216.2(GALE):c.425T>C (p.Leu142Pro)
NM_001008216.2(GALE):c.442C>A (p.His148Asn) rs1006253988
NM_001008216.2(GALE):c.450G>A (p.Thr150=) rs566884215
NM_001008216.2(GALE):c.472G>A (p.Gly158Ser)
NM_001008216.2(GALE):c.488T>G (p.Phe163Cys) rs1570632874
NM_001008216.2(GALE):c.493G>C (p.Glu165Gln)
NM_001008216.2(GALE):c.529-11A>G
NM_001008216.2(GALE):c.529-22_535dup
NM_001008216.2(GALE):c.560A>G (p.Asn187Ser)
NM_001008216.2(GALE):c.689A>G (p.Tyr230Cys)
NM_001008216.2(GALE):c.699_700insTCAGAG (p.Glu233_Asp234insSerGlu)
NM_001008216.2(GALE):c.713T>C (p.Val238Ala) rs1348284514
NM_001008216.2(GALE):c.796A>T (p.Ile266Phe)
NM_001008216.2(GALE):c.80A>G (p.Tyr27Cys)
NM_001008216.2(GALE):c.873+6C>T rs1553130228
NM_001008216.2(GALE):c.873G>A (p.Lys291=) rs1570630092
NM_001008216.2(GALE):c.904G>T (p.Gly302Cys) rs146052241
NM_001008216.2(GALE):c.988+5G>A rs1035870470
NM_001008216.2(GALE):c.989-13C>T rs199622680
NM_001008216.2(GALE):c.989G>A (p.Cys330Tyr) rs768527360

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