ClinVar Miner

List of variants in gene GLE1, LOC101929270 studied for lethal congenital contracture syndrome

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001003722.2(GLE1):c.1647-44A>G rs3763600 0.26906
NM_001003722.2(GLE1):c.*73G>A rs10760563 0.20436
NM_001003722.2(GLE1):c.*181C>A rs10513496 0.05473
NM_001003722.2(GLE1):c.*387C>G rs78624767 0.00891
NM_001003722.2(GLE1):c.*1005T>C rs4466499 0.00804
NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr) rs141709685 0.00155
NM_001003722.2(GLE1):c.*111T>C rs567740764 0.00041
NM_001003722.2(GLE1):c.*536G>A rs371069460 0.00034
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=) rs77053118 0.00031
NM_001003722.2(GLE1):c.1731C>T (p.Tyr577=) rs199722904 0.00019
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His) rs121434407 0.00010
NM_001003722.2(GLE1):c.*540G>A rs886063492 0.00008
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.1882-8C>G rs757998854 0.00003
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.1431A>G (p.Gln477=) rs149283351 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.*907G>C rs55823126
NM_001003722.2(GLE1):c.*933A>C rs537244282
NM_001003722.2(GLE1):c.1396G>A (p.Val466Ile) rs72756895
NM_001003722.2(GLE1):c.1456-1G>A
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.1675_1723del (p.Lys559fs)
NM_001003722.2(GLE1):c.1712C>G (p.Ser571Ter)
NM_001003722.2(GLE1):c.1835A>T (p.Glu612Val)
NM_001003722.2(GLE1):c.1881+1G>T rs1847775573
NM_001003722.2(GLE1):c.1964+8G>T rs1847831145
NM_001003722.2(GLE1):c.2015dup (p.Gln673fs)
NM_001003722.2(GLE1):c.2028+15G>A rs886063490
NM_001003722.2(GLE1):c.2028+1G>A
NM_001003722.2(GLE1):c.2029-1G>A

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