ClinVar Miner

List of variants in gene GALE studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 94
Download table as spreadsheet
HGVS dbSNP
NM_001008216.2(GALE):c.*12T>G
NM_001008216.2(GALE):c.*158G>A
NM_001008216.2(GALE):c.*178G>A
NM_001008216.2(GALE):c.*192T>C rs576468712
NM_001008216.2(GALE):c.*195T>C
NM_001008216.2(GALE):c.*326_*328dup rs557214506
NM_001008216.2(GALE):c.*327A>T rs535702110
NM_001008216.2(GALE):c.*69G>A
NM_001008216.2(GALE):c.-77+168T>G
NM_001008216.2(GALE):c.-77+205C>G
NM_001008216.2(GALE):c.-77+241C>G rs566996145
NM_001008216.2(GALE):c.-77+340G>C rs568182391
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046
NM_001008216.2(GALE):c.13G>T (p.Val5Leu) rs1570635677
NM_001008216.2(GALE):c.140A>C (p.Glu47Ala) rs367768055
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)
NM_001008216.2(GALE):c.187G>C (p.Glu63Gln)
NM_001008216.2(GALE):c.192G>A (p.Glu64=)
NM_001008216.2(GALE):c.237+11G>A
NM_001008216.2(GALE):c.237+19C>A
NM_001008216.2(GALE):c.237+20G>A rs370761057
NM_001008216.2(GALE):c.238-6C>T
NM_001008216.2(GALE):c.269G>A (p.Gly90Glu) rs28940882
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp) rs1243531358
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr) rs542486536
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly) rs28940883
NM_001008216.2(GALE):c.319G>A (p.Val107Ile)
NM_001008216.2(GALE):c.31G>T (p.Ala11Ser)
NM_001008216.2(GALE):c.330C>T (p.Thr110=) rs377557637
NM_001008216.2(GALE):c.351+1G>T
NM_001008216.2(GALE):c.352-15T>C
NM_001008216.2(GALE):c.369G>A (p.Gly123=) rs138148991
NM_001008216.2(GALE):c.372G>A (p.Val124=) rs550325454
NM_001008216.2(GALE):c.376A>G (p.Asn126Asp)
NM_001008216.2(GALE):c.382G>A (p.Val128Met) rs778887800
NM_001008216.2(GALE):c.409G>A (p.Gly137Arg)
NM_001008216.2(GALE):c.423C>T (p.Tyr141=) rs138518245
NM_001008216.2(GALE):c.447C>G (p.Pro149=) rs571625657
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
NM_001008216.2(GALE):c.450G>A (p.Thr150=) rs566884215
NM_001008216.2(GALE):c.488T>G (p.Phe163Cys) rs1570632874
NM_001008216.2(GALE):c.492C>T (p.Ile164=) rs370228054
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln) rs140878602
NM_001008216.2(GALE):c.529-12C>T
NM_001008216.2(GALE):c.548T>C (p.Leu183Pro) rs121908045
NM_001008216.2(GALE):c.602C>T (p.Pro201Leu) rs199904829
NM_001008216.2(GALE):c.611T>C (p.Ile204Thr)
NM_001008216.2(GALE):c.643-7C>T rs771926683
NM_001008216.2(GALE):c.647C>T (p.Ala216Val) rs542192037
NM_001008216.2(GALE):c.648G>A (p.Ala216=) rs144723215
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp) rs764909409
NM_001008216.2(GALE):c.659G>C (p.Arg220Pro) rs756780233
NM_001008216.2(GALE):c.709+14C>G rs6692104
NM_001008216.2(GALE):c.709+18G>A rs200584878
NM_001008216.2(GALE):c.710G>A (p.Gly237Asp) rs756944736
NM_001008216.2(GALE):c.713T>C (p.Val238Ala)
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860
NM_001008216.2(GALE):c.723C>T (p.Tyr241=)
NM_001008216.2(GALE):c.728A>C (p.His243Pro)
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001008216.2(GALE):c.755T>C (p.Ile252Thr) rs148834880
NM_001008216.2(GALE):c.760G>A (p.Ala254Thr) rs926654478
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796
NM_001008216.2(GALE):c.795+7A>C
NM_001008216.2(GALE):c.812C>T (p.Thr271Met)
NM_001008216.2(GALE):c.873+13G>A rs760941
NM_001008216.2(GALE):c.873+13G>C rs760941
NM_001008216.2(GALE):c.873+13_873+14insA rs765063773
NM_001008216.2(GALE):c.873+6C>T rs1553130228
NM_001008216.2(GALE):c.873+7C>A rs746500876
NM_001008216.2(GALE):c.873G>A (p.Lys291=) rs1570630092
NM_001008216.2(GALE):c.874-9G>A
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu)
NM_001008216.2(GALE):c.879G>A (p.Pro293=) rs142332521
NM_001008216.2(GALE):c.879G>C (p.Pro293=)
NM_001008216.2(GALE):c.899G>A (p.Arg300Gln)
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp) rs137853861
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860
NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys) rs780393850
NM_001008216.2(GALE):c.924C>T (p.Tyr308=) rs377444727
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.955G>C (p.Gly319Arg) rs752384408
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885
NM_001008216.2(GALE):c.973G>A (p.Gly325Arg) rs770436207
NM_001008216.2(GALE):c.979G>C (p.Asp327His) rs150326189
NM_001008216.2(GALE):c.97G>A (p.Asp33Asn) rs727503945
NM_001008216.2(GALE):c.988+7G>A rs200182186
NM_001008216.2(GALE):c.989-13C>T
NM_001008216.2(GALE):c.989G>A (p.Cys330Tyr)
NM_001008216.2(GALE):c.997C>A (p.Leu333Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.