List of variants in gene ADAMTSL2 reported as uncertain significance for Lethal short-limb skeletal dysplasia, Al Gazali type

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014694.4(ADAMTSL2):c.-151+2T>C	rs1432091144	0.00001
NM_014694.4(ADAMTSL2):c.157T>C (p.Trp53Arg)	rs2490847592	0.00001
NM_014694.4(ADAMTSL2):c.1934G>A (p.Arg645His)	rs1831023991
NM_014694.4(ADAMTSL2):c.1998C>G (p.Cys666Trp)	rs1275994903
NM_014694.4(ADAMTSL2):c.2137T>C (p.Cys713Arg)	rs2538215355
NM_014694.4(ADAMTSL2):c.2626C>G (p.Arg876Gly)	rs1292129447

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