ClinVar Miner

List of variants in gene HEXA reported as pathogenic by Fulgent Genetics,Fulgent Genetics

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1421+1G>C rs147324677
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954

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