ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.6(HEXA):c.1337C>G (p.Pro446Arg) rs939203533
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) rs573269641
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro)
NM_000520.6(HEXA):c.672+30T>G rs117160567
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys)
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428

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