ClinVar Miner

List of variants reported as uncertain significance for Lethal congenital contracture syndrome 1 by Illumina Laboratory Services, Illumina

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Total variants: 45
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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.-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

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