List of variants reported as uncertain significance for Lethal congenital contracture syndrome 11

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_181789.4(GLDN):c.1160G>A (p.Gly387Asp)
NM_181789.4(GLDN):c.1494G>C (p.Leu498Phe)
NM_181789.4(GLDN):c.314G>A (p.Arg105His)	rs764097726
NM_181789.4(GLDN):c.363+1G>A	rs556661550
NM_181789.4(GLDN):c.79T>C (p.Ser27Pro)

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