ClinVar Miner

List of variants in gene HEXA reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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NM_000520.6(HEXA):c.1183del (p.Asp395fs)
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928
NM_000520.6(HEXA):c.436del (p.Val146fs) rs1057517174
NM_000520.6(HEXA):c.616del (p.Leu205_Val206insTer)

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