ClinVar Miner

List of variants in gene HEXA reported as uncertain significance for not provided

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Total variants: 18
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HGVS dbSNP
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167
NM_000520.6(HEXA):c.1337C>G (p.Pro446Arg) rs939203533
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219
NM_000520.6(HEXA):c.1527-6T>C rs199914308
NM_000520.6(HEXA):c.1549C>G (p.Leu517Val)
NM_000520.6(HEXA):c.298G>T (p.Val100Phe) rs794727250
NM_000520.6(HEXA):c.310T>G (p.Cys104Gly) rs1064796678
NM_000520.6(HEXA):c.38C>T (p.Ala13Val) rs145666272
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270
NM_000520.6(HEXA):c.574G>A (p.Val192Ile) rs387906310
NM_000520.6(HEXA):c.698T>C (p.Ile233Thr)
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys) rs1555475519
NM_000520.6(HEXA):c.736G>T (p.Ala246Ser)
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970

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