ClinVar Miner

List of variants in gene GLE1 studied for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) rs2275260 0.26894
NM_001003722.2(GLE1):c.99+29C>G rs56164320 0.04523
NM_001003722.2(GLE1):c.1000G>A (p.Glu334Lys) rs138310419 0.01201
NM_001003722.2(GLE1):c.433-15A>C rs752897261 0.00213
NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn) rs146800850 0.00086
NM_001003722.2(GLE1):c.433-10A>G rs386833693 0.00082
NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg) rs150246404 0.00076
NM_001003722.2(GLE1):c.947G>A (p.Arg316Gln) rs147943229 0.00056
NM_001003722.2(GLE1):c.679C>T (p.Arg227Cys) rs146025848 0.00048
NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr) rs138871311 0.00031
NM_001003722.2(GLE1):c.643-4A>G rs369804957 0.00020
NM_001003722.2(GLE1):c.1109C>T (p.Pro370Leu) rs147123899 0.00016
NM_001003722.2(GLE1):c.573G>C (p.Met191Ile) rs201267934 0.00011
NM_001003722.2(GLE1):c.-45T>C rs372008961 0.00006
NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu) rs549769200 0.00006
NM_001003722.2(GLE1):c.-51G>A rs527886091 0.00004
NM_001003722.2(GLE1):c.1243-5G>A rs372835667 0.00004
NM_001003722.2(GLE1):c.485C>T (p.Ser162Leu) rs150781935 0.00004
NM_001003722.2(GLE1):c.700G>A (p.Glu234Lys) rs759512355 0.00002
NM_001003722.2(GLE1):c.737G>A (p.Arg246Gln) rs778870141 0.00002
NM_001003722.2(GLE1):c.1130-15T>C rs758765842 0.00001
NM_001003722.2(GLE1):c.270C>T (p.Asp90=) rs777044751 0.00001
NM_001003722.2(GLE1):c.487G>C (p.Glu163Gln) rs746377265 0.00001
NM_001003722.2(GLE1):c.719A>G (p.Glu240Gly) rs751057699 0.00001
NM_001003722.2(GLE1):c.76C>G (p.Arg26Gly) rs998518976 0.00001
NM_001003722.1(GLE1):c.100-7_100-3del rs1589040836
NM_001003722.2(GLE1):c.-34G>A rs746646699
NM_001003722.2(GLE1):c.1139T>C (p.Val380Ala) rs1847325321
NM_001003722.2(GLE1):c.1242+30G>T rs869455
NM_001003722.2(GLE1):c.321+13T>G rs752458769
NM_001003722.2(GLE1):c.336C>G (p.Ser112=) rs1467727552
NM_001003722.2(GLE1):c.380A>C (p.Lys127Thr) rs369524210
NM_001003722.2(GLE1):c.428del (p.Gly143fs) rs2132430609
NM_001003722.2(GLE1):c.749C>T (p.Ala250Val) rs886063489
NM_001003722.2(GLE1):c.928G>A (p.Glu310Lys) rs1399822902
NM_001003722.2(GLE1):c.946C>T (p.Arg316Trp) rs749236753

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.