ClinVar Miner

List of variants in gene HEXA reported by Ambry Genetics

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Gene type:
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Total variants: 4
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HGVS dbSNP
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956
NM_000520.6(HEXA):c.912_914CTT[1] (p.Phe305del) rs121907960

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