ClinVar Miner

List of variants in gene GALE studied for UDPglucose-4-epimerase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 329
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HGVS dbSNP gnomAD frequency
NM_001008216.2(GALE):c.873+13G>A rs760941 0.65959
NM_001008216.2(GALE):c.709+14C>G rs6692104 0.01759
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796 0.00283
NM_001008216.2(GALE):c.873+20C>T rs141022680 0.00283
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860 0.00244
NM_001008216.2(GALE):c.879G>A (p.Pro293=) rs142332521 0.00203
NM_001008216.2(GALE):c.237+11G>A rs201276934 0.00183
NM_001008216.2(GALE):c.529-12C>T rs369293480 0.00169
NM_001008216.2(GALE):c.709+18G>A rs200584878 0.00158
NM_001008216.2(GALE):c.873+13G>C rs760941 0.00124
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885 0.00121
NM_001008216.2(GALE):c.*195T>C rs78587342 0.00066
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.492C>T (p.Ile164=) rs370228054 0.00011
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.237+20G>A rs370761057 0.00007
NM_001008216.2(GALE):c.795+8G>C rs374975277 0.00007
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr) rs542486536 0.00006
NM_001008216.2(GALE):c.873+7C>A rs746500876 0.00006
NM_001008216.2(GALE):c.352-15T>C rs913690101 0.00005
NM_001008216.2(GALE):c.372G>A (p.Val124=) rs550325454 0.00005
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln) rs140878602 0.00005
NM_001008216.2(GALE):c.988+18C>T rs374716589 0.00005
NM_001008216.2(GALE):c.*69G>A rs543116262 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.505C>T (p.Arg169Trp) rs137853859 0.00003
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.924C>T (p.Tyr308=) rs377444727 0.00003
NM_001008216.2(GALE):c.988+7G>A rs200182186 0.00003
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) rs780517804 0.00002
NM_001008216.2(GALE):c.291G>A (p.Ser97=) rs774474579 0.00002
NM_001008216.2(GALE):c.352-7C>T rs762919578 0.00002
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.905G>A (p.Gly302Asp) rs137853861 0.00002
NM_001008216.2(GALE):c.979G>C (p.Asp327His) rs150326189 0.00002
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046 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.280G>A (p.Val94Met) rs121908047 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.408C>T (p.Tyr136=) rs727503943 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.643-7C>T rs771926683 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.715C>T (p.Arg239Trp) rs137853860 0.00001
NM_001008216.2(GALE):c.723C>T (p.Tyr241=) rs777457188 0.00001
NM_001008216.2(GALE):c.753C>T (p.His251=) rs766024842 0.00001
NM_001008216.2(GALE):c.796-1G>T rs779828095 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.1000T>C (p.Trp334Arg)
NM_001008216.2(GALE):c.1003C>T (p.Arg335Cys)
NM_001008216.2(GALE):c.1004G>A (p.Arg335His)
NM_001008216.2(GALE):c.1014G>A (p.Lys338=)
NM_001008216.2(GALE):c.102C>T (p.Asn34=)
NM_001008216.2(GALE):c.1038G>A (p.Thr346=)
NM_001008216.2(GALE):c.110A>G (p.Asn37Ser)
NM_001008216.2(GALE):c.114C>T (p.Ala38=)
NM_001008216.2(GALE):c.121+10G>A
NM_001008216.2(GALE):c.121+11C>T
NM_001008216.2(GALE):c.121+16G>T
NM_001008216.2(GALE):c.121+18G>T
NM_001008216.2(GALE):c.121+7G>A
NM_001008216.2(GALE):c.122-11_122-1del
NM_001008216.2(GALE):c.122-13T>C
NM_001008216.2(GALE):c.122-14A>C
NM_001008216.2(GALE):c.122-14A>G
NM_001008216.2(GALE):c.122-18C>T
NM_001008216.2(GALE):c.122-19C>T
NM_001008216.2(GALE):c.122-20G>A
NM_001008216.2(GALE):c.122-20G>T
NM_001008216.2(GALE):c.122-4C>T
NM_001008216.2(GALE):c.122-7del
NM_001008216.2(GALE):c.132C>T (p.Ser44=)
NM_001008216.2(GALE):c.138T>C (p.Pro46=)
NM_001008216.2(GALE):c.138T>G (p.Pro46=)
NM_001008216.2(GALE):c.13G>T (p.Val5Leu) rs1570635677
NM_001008216.2(GALE):c.144C>T (p.Ser48=)
NM_001008216.2(GALE):c.147G>A (p.Leu49=)
NM_001008216.2(GALE):c.147G>C (p.Leu49=)
NM_001008216.2(GALE):c.150G>A (p.Arg50=)
NM_001008216.2(GALE):c.151_154del (p.Arg51fs)
NM_001008216.2(GALE):c.152_155del (p.Arg51fs)
NM_001008216.2(GALE):c.153G>A (p.Arg51=)
NM_001008216.2(GALE):c.156C>T (p.Val52=)
NM_001008216.2(GALE):c.172C>T (p.Arg58Cys)
NM_001008216.2(GALE):c.180G>T (p.Val60=)
NM_001008216.2(GALE):c.189G>A (p.Glu63=)
NM_001008216.2(GALE):c.196dup (p.Asp66fs)
NM_001008216.2(GALE):c.1A>G (p.Met1Val)
NM_001008216.2(GALE):c.207C>A (p.Asp69Glu) rs1261697960
NM_001008216.2(GALE):c.207C>T (p.Asp69=)
NM_001008216.2(GALE):c.217C>T (p.Leu73=)
NM_001008216.2(GALE):c.224G>A (p.Arg75His)
NM_001008216.2(GALE):c.231C>T (p.Phe77=)
NM_001008216.2(GALE):c.237+19C>A rs774395385
NM_001008216.2(GALE):c.237+19C>T
NM_001008216.2(GALE):c.237+1G>T
NM_001008216.2(GALE):c.238-16C>T
NM_001008216.2(GALE):c.238-17C>T
NM_001008216.2(GALE):c.238-20T>C
NM_001008216.2(GALE):c.238-6C>G
NM_001008216.2(GALE):c.252G>A (p.Ala84=)
NM_001008216.2(GALE):c.266C>T (p.Ala89Val)
NM_001008216.2(GALE):c.267G>A (p.Ala89=)
NM_001008216.2(GALE):c.269G>A (p.Gly90Glu) rs28940882
NM_001008216.2(GALE):c.270G>A (p.Gly90=)
NM_001008216.2(GALE):c.273C>G (p.Leu91=)
NM_001008216.2(GALE):c.279C>T (p.Ala93=)
NM_001008216.2(GALE):c.285C>T (p.Gly95=)
NM_001008216.2(GALE):c.286G>A (p.Glu96Lys)
NM_001008216.2(GALE):c.288G>A (p.Glu96=)
NM_001008216.2(GALE):c.290C>T (p.Ser97Leu)
NM_001008216.2(GALE):c.2T>C (p.Met1Thr)
NM_001008216.2(GALE):c.300G>A (p.Lys100=)
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.324C>T (p.Asn108=)
NM_001008216.2(GALE):c.330C>T (p.Thr110=) rs377557637
NM_001008216.2(GALE):c.345T>A (p.Leu115=)
NM_001008216.2(GALE):c.351+16C>A
NM_001008216.2(GALE):c.351+17A>G
NM_001008216.2(GALE):c.351+17_351+18del
NM_001008216.2(GALE):c.351+1G>T rs1388106856
NM_001008216.2(GALE):c.351+2T>C
NM_001008216.2(GALE):c.352-16A>G
NM_001008216.2(GALE):c.352-19G>A
NM_001008216.2(GALE):c.352-1G>C
NM_001008216.2(GALE):c.352-4C>T
NM_001008216.2(GALE):c.352-9C>T
NM_001008216.2(GALE):c.358A>G (p.Lys120Glu)
NM_001008216.2(GALE):c.366C>T (p.His122=)
NM_001008216.2(GALE):c.369G>C (p.Gly123=)
NM_001008216.2(GALE):c.384G>A (p.Val128=)
NM_001008216.2(GALE):c.399C>G (p.Ala133=)
NM_001008216.2(GALE):c.3G>A (p.Met1Ile)
NM_001008216.2(GALE):c.402T>C (p.Thr134=)
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001008216.2(GALE):c.409G>A (p.Gly137Arg) rs372715385
NM_001008216.2(GALE):c.426G>A (p.Leu142=)
NM_001008216.2(GALE):c.435T>C (p.Asp145=)
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.450G>T (p.Thr150=)
NM_001008216.2(GALE):c.456T>C (p.Gly152=)
NM_001008216.2(GALE):c.459T>C (p.Cys153=)
NM_001008216.2(GALE):c.471C>T (p.Tyr157=)
NM_001008216.2(GALE):c.472G>A (p.Gly158Ser)
NM_001008216.2(GALE):c.477G>A (p.Lys159=)
NM_001008216.2(GALE):c.486C>T (p.Phe162=)
NM_001008216.2(GALE):c.488T>G (p.Phe163Cys) rs1570632874
NM_001008216.2(GALE):c.493G>C (p.Glu165Gln)
NM_001008216.2(GALE):c.504C>A (p.Ile168=)
NM_001008216.2(GALE):c.505C>A (p.Arg169=)
NM_001008216.2(GALE):c.510C>T (p.Asp170=)
NM_001008216.2(GALE):c.517del (p.Gln173fs)
NM_001008216.2(GALE):c.51C>T (p.His17=)
NM_001008216.2(GALE):c.528+18A>G
NM_001008216.2(GALE):c.528+19G>A
NM_001008216.2(GALE):c.528+1G>A
NM_001008216.2(GALE):c.528+8C>G
NM_001008216.2(GALE):c.528+8C>T
NM_001008216.2(GALE):c.529-10C>T
NM_001008216.2(GALE):c.529-11A>G
NM_001008216.2(GALE):c.529-17T>C
NM_001008216.2(GALE):c.529-18C>G
NM_001008216.2(GALE):c.529-22_535dup
NM_001008216.2(GALE):c.529-5C>T
NM_001008216.2(GALE):c.529-6C>T
NM_001008216.2(GALE):c.529-8T>A
NM_001008216.2(GALE):c.531T>C (p.Thr177=)
NM_001008216.2(GALE):c.534G>A (p.Trp178Ter)
NM_001008216.2(GALE):c.537C>T (p.Asn179=)
NM_001008216.2(GALE):c.548T>C (p.Leu183Pro) rs121908045
NM_001008216.2(GALE):c.54G>A (p.Thr18=)
NM_001008216.2(GALE):c.54G>C (p.Thr18=)
NM_001008216.2(GALE):c.54G>T (p.Thr18=)
NM_001008216.2(GALE):c.552C>G (p.Arg184=)
NM_001008216.2(GALE):c.560A>G (p.Asn187Ser)
NM_001008216.2(GALE):c.563_564del (p.Pro188fs)
NM_001008216.2(GALE):c.573C>T (p.Ala191=)
NM_001008216.2(GALE):c.579C>A (p.Ala193=)
NM_001008216.2(GALE):c.588C>T (p.Cys196=)
NM_001008216.2(GALE):c.609C>T (p.Gly203=)
NM_001008216.2(GALE):c.621C>T (p.Asn207=)
NM_001008216.2(GALE):c.634_635del (p.Val212fs)
NM_001008216.2(GALE):c.636C>A (p.Val212=)
NM_001008216.2(GALE):c.63G>A (p.Glu21=)
NM_001008216.2(GALE):c.642+11A>G
NM_001008216.2(GALE):c.642+16A>G
NM_001008216.2(GALE):c.642+18G>A
NM_001008216.2(GALE):c.642+1G>A
NM_001008216.2(GALE):c.642+7C>T
NM_001008216.2(GALE):c.643-10C>T
NM_001008216.2(GALE):c.643-15G>C
NM_001008216.2(GALE):c.643-17C>T
NM_001008216.2(GALE):c.643-19A>G
NM_001008216.2(GALE):c.643-2A>C
NM_001008216.2(GALE):c.643-5T>A
NM_001008216.2(GALE):c.643-6C>T
NM_001008216.2(GALE):c.651C>T (p.Ile217=)
NM_001008216.2(GALE):c.655C>T (p.Arg219Ter)
NM_001008216.2(GALE):c.660G>C (p.Arg220=)
NM_001008216.2(GALE):c.689A>G (p.Tyr230Cys)
NM_001008216.2(GALE):c.689_690del (p.Asp229_Tyr230insTer)
NM_001008216.2(GALE):c.695_696del (p.Thr232fs)
NM_001008216.2(GALE):c.699_700insTCAGAG (p.Glu233_Asp234insSerGlu)
NM_001008216.2(GALE):c.69G>A (p.Leu23=)
NM_001008216.2(GALE):c.700del (p.Asp234fs)
NM_001008216.2(GALE):c.709+14C>T
NM_001008216.2(GALE):c.709+15del rs1196635557
NM_001008216.2(GALE):c.709+16G>C
NM_001008216.2(GALE):c.709+2_709+17del
NM_001008216.2(GALE):c.709+7C>G
NM_001008216.2(GALE):c.710-12C>T
NM_001008216.2(GALE):c.710-16A>G
NM_001008216.2(GALE):c.710-18A>G
NM_001008216.2(GALE):c.710-19C>T
NM_001008216.2(GALE):c.710-2A>G
NM_001008216.2(GALE):c.713T>C (p.Val238Ala) rs1348284514
NM_001008216.2(GALE):c.720T>C (p.Asp240=)
NM_001008216.2(GALE):c.732C>G (p.Val244=)
NM_001008216.2(GALE):c.732C>T (p.Val244=)
NM_001008216.2(GALE):c.735G>C (p.Val245=)
NM_001008216.2(GALE):c.744C>T (p.Ala248=)
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001008216.2(GALE):c.773dup (p.Lys259fs)
NM_001008216.2(GALE):c.795+12A>G
NM_001008216.2(GALE):c.795+13G>A
NM_001008216.2(GALE):c.795+13G>C
NM_001008216.2(GALE):c.795+14_795+15del
NM_001008216.2(GALE):c.795+16A>G
NM_001008216.2(GALE):c.795+1G>A
NM_001008216.2(GALE):c.795+20G>T
NM_001008216.2(GALE):c.795+7A>C rs755752373
NM_001008216.2(GALE):c.795+9A>C
NM_001008216.2(GALE):c.805C>T (p.Leu269=)
NM_001008216.2(GALE):c.80A>G (p.Tyr27Cys)
NM_001008216.2(GALE):c.813G>A (p.Thr271=)
NM_001008216.2(GALE):c.815del (p.Gly272fs)
NM_001008216.2(GALE):c.822C>T (p.Gly274=)
NM_001008216.2(GALE):c.843C>G (p.Val281=)
NM_001008216.2(GALE):c.843C>T (p.Val281=)
NM_001008216.2(GALE):c.846G>A (p.Gln282=)
NM_001008216.2(GALE):c.84G>A (p.Leu28=)
NM_001008216.2(GALE):c.855G>A (p.Glu285=)
NM_001008216.2(GALE):c.873+12C>G
NM_001008216.2(GALE):c.873+14_873+15insCA
NM_001008216.2(GALE):c.873+18A>G
NM_001008216.2(GALE):c.873+2T>C
NM_001008216.2(GALE):c.873+6C>T rs1553130228
NM_001008216.2(GALE):c.873+7C>T rs746500876
NM_001008216.2(GALE):c.873G>A (p.Lys291=) rs1570630092
NM_001008216.2(GALE):c.874-14C>T
NM_001008216.2(GALE):c.874-15C>T
NM_001008216.2(GALE):c.874-18C>T
NM_001008216.2(GALE):c.874-19A>G
NM_001008216.2(GALE):c.874-9G>C
NM_001008216.2(GALE):c.879G>C (p.Pro293=) rs142332521
NM_001008216.2(GALE):c.87T>C (p.Pro29=)
NM_001008216.2(GALE):c.894A>G (p.Ala298=)
NM_001008216.2(GALE):c.904G>T (p.Gly302Cys) rs146052241
NM_001008216.2(GALE):c.90G>A (p.Val30=)
NM_001008216.2(GALE):c.933del (p.Ser312fs)
NM_001008216.2(GALE):c.936C>T (p.Ser312=) rs1570629036
NM_001008216.2(GALE):c.937C>A (p.Leu313Met) rs3180383
NM_001008216.2(GALE):c.951G>A (p.Glu317=)
NM_001008216.2(GALE):c.957G>A (p.Gly319=)
NM_001008216.2(GALE):c.96C>T (p.Ile32=)
NM_001008216.2(GALE):c.978G>A (p.Leu326=)
NM_001008216.2(GALE):c.988+11G>T
NM_001008216.2(GALE):c.988+12C>T
NM_001008216.2(GALE):c.988+14T>C
NM_001008216.2(GALE):c.988+17C>T
NM_001008216.2(GALE):c.988+19C>T
NM_001008216.2(GALE):c.988+5G>A rs1035870470
NM_001008216.2(GALE):c.989-10C>T
NM_001008216.2(GALE):c.989-11C>T
NM_001008216.2(GALE):c.989-12G>A
NM_001008216.2(GALE):c.989-13C>T rs199622680
NM_001008216.2(GALE):c.989-16C>T
NM_001008216.2(GALE):c.989-18C>T
NM_001008216.2(GALE):c.989-19A>T
NM_001008216.2(GALE):c.989-20C>T
NM_001008216.2(GALE):c.989-7G>A
NM_001008216.2(GALE):c.989-8T>C
NM_001008216.2(GALE):c.989-8del
NM_001008216.2(GALE):c.989-9G>A
NM_001008216.2(GALE):c.989G>A (p.Cys330Tyr) rs768527360
NM_001008216.2(GALE):c.993G>A (p.Glu331=)
NM_001008216.2(GALE):c.996T>C (p.Asp332=)
NM_001008216.2(GALE):c.999C>G (p.Leu333=)
NM_001008216.2(GALE):c.9G>A (p.Glu3=)

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