ClinVar Miner

List of variants in gene HEXA reported as pathogenic by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 8
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NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956
NM_000520.6(HEXA):c.1A>T (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
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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