ClinVar Miner

List of variants studied for Lethal congenital contracture syndrome 1 by Genome-Nilou Lab

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001003722.2(GLE1):c.1647-44A>G rs3763600 0.26906
NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) rs2275260 0.26894
NM_001003722.2(GLE1):c.*73G>A rs10760563 0.20436
NM_001003722.2(GLE1):c.99+29C>G rs56164320 0.04523
NM_001003722.2(GLE1):c.1242+30G>T rs869455

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