ClinVar Miner

List of variants in gene combination GLE1, LOC101929270 reported as benign for Lethal congenital contracture syndrome 1

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Total variants: 6
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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.*907G>C rs55823126

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