ClinVar Miner

List of variants in gene ACVRL1 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 8
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1046T>G (p.Leu349Arg) rs765895870
NM_000020.2(ACVRL1):c.1103C>T (p.Pro368Leu) rs748123979
NM_000020.2(ACVRL1):c.1118A>G (p.Lys373Arg) rs1324917279
NM_000020.2(ACVRL1):c.1276T>A (p.Tyr426Asn) rs1565596460
NM_000020.2(ACVRL1):c.238C>T (p.Arg80Cys) rs756447582
NM_000020.2(ACVRL1):c.304G>C (p.Val102Leu) rs1555152538
NM_000020.2(ACVRL1):c.822G>T (p.Trp274Cys) rs757645341
NM_000020.2(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217

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