ClinVar Miner

List of variants studied for Lethal congenital contracture syndrome 11 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_181789.4(GLDN):c.1494G>C (p.Leu498Phe)
NM_181789.4(GLDN):c.363+1G>A rs556661550
NM_181789.4(GLDN):c.59T>C (p.Leu20Pro) rs1595795307

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