ClinVar Miner

List of variants in gene HEXA reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306 0.00016
NM_000520.6(HEXA):c.1330+20C>T

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