ClinVar Miner

List of variants reported as uncertain significance for lethal congenital contracture syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001003722.2(GLE1):c.-81C>T rs56214514 0.00137
NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn) rs146800850 0.00086
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.*111T>C rs567740764 0.00041
NM_001003722.2(GLE1):c.679C>T (p.Arg227Cys) rs146025848 0.00038
NM_001003722.2(GLE1):c.*536G>A rs371069460 0.00034
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_001499.2(GLE1):c.-108C>A rs545478697 0.00010
NM_001003722.2(GLE1):c.*540G>A rs886063492 0.00008
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.*618T>C rs973004617 0.00005
NM_001003722.2(GLE1):c.*1002G>C rs1019748251 0.00004
NM_001003722.2(GLE1):c.*425A>G rs577169921 0.00004
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.1882-8C>G rs757998854 0.00003
NM_001003722.2(GLE1):c.737G>A (p.Arg246Gln) rs778870141 0.00002
NM_001003722.2(GLE1):c.*381C>T rs1406484784 0.00001
NM_001003722.2(GLE1):c.*962C>T rs1429188870 0.00001
NM_001003722.2(GLE1):c.-84A>C rs886063488 0.00001
NM_001003722.2(GLE1):c.1130-15T>C rs758765842 0.00001
NM_001003722.2(GLE1):c.1431A>G (p.Gln477=) rs149283351 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_001003722.2(GLE1):c.*390C>T rs886063491
NM_001003722.2(GLE1):c.*525C>T rs565110597
NM_001003722.2(GLE1):c.*599G>A rs1847888254
NM_001003722.2(GLE1):c.*640C>T rs575049150
NM_001003722.2(GLE1):c.*708T>C rs886063493
NM_001003722.2(GLE1):c.*782C>G rs886063494
NM_001003722.2(GLE1):c.*907G>A rs55823126
NM_001003722.2(GLE1):c.*933A>C rs537244282
NM_001003722.2(GLE1):c.-34G>A rs746646699
NM_001003722.2(GLE1):c.1396G>A (p.Val466Ile) rs72756895
NM_001003722.2(GLE1):c.1493C>G (p.Ala498Gly) rs1847604014
NM_001003722.2(GLE1):c.1554C>A (p.Asp518Glu) rs1345583590
NM_001003722.2(GLE1):c.1964+8G>T rs1847831145
NM_001003722.2(GLE1):c.2028+15G>A rs886063490
NM_001003722.2(GLE1):c.321+13T>G rs752458769
NM_001003722.2(GLE1):c.749C>T (p.Ala250Val) rs886063489
NM_001003722.2(GLE1):c.928G>A (p.Glu310Lys) rs1399822902

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.