List of variants in gene ADAMTSL2 reported as likely pathogenic 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_014694.4(ADAMTSL2):c.229C>T (p.Gln77Ter)	rs1408123846	0.00001
NM_014694.4(ADAMTSL2):c.337C>T (p.Arg113Cys)	rs1166449446	0.00001
NM_014694.4(ADAMTSL2):c.496C>T (p.Arg166Cys)	rs752050271	0.00001
NM_014694.4(ADAMTSL2):c.502G>A (p.Gly168Ser)	rs756311258	0.00001
NM_014694.4(ADAMTSL2):c.1061del (p.Gly354fs)	rs2490935380
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His)	rs113994122
NM_014694.4(ADAMTSL2):c.718C>T (p.Arg240Ter)	rs778178248
NM_014694.4(ADAMTSL2):c.800G>T (p.Gly267Val)	rs2490903076

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