ClinVar Miner

List of variants in gene HEXA reported as pathogenic by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965
NM_000520.6(HEXA):c.346+1G>A rs797044432

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