ClinVar Miner

List of variants in gene ADAMTSL2 reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014694.4(ADAMTSL2):c.683-12T>G rs9802778 0.85656
NM_014694.4(ADAMTSL2):c.840A>T (p.Ala280=) rs2073875 0.85265
NM_014694.4(ADAMTSL2):c.774C>T (p.Asp258=) rs2073874 0.85257
NM_014694.4(ADAMTSL2):c.859A>C (p.Arg287=) rs2073876 0.85254
NM_014694.4(ADAMTSL2):c.939+11C>T rs2073878 0.85229
NM_014694.4(ADAMTSL2):c.309+16G>T rs13283227 0.12632
NM_014694.4(ADAMTSL2):c.900C>T (p.Ile300=) rs2073877 0.10895
NM_014694.4(ADAMTSL2):c.310-9G>A rs147342065

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