ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293
NM_000520.6(HEXA):c.1337C>G (p.Pro446Arg) rs939203533
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) rs573269641
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro) rs141120074
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) rs148199798

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