ClinVar Miner

List of variants in gene HEXA reported by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000520.6(HEXA):c.-4G>A rs766510036
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.6(HEXA):c.672+30T>G rs117160567
NM_000520.6(HEXA):c.927_928CT[1] (p.Ser310fs) rs751248523
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428

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