ClinVar Miner

List of variants in gene HEXA reported by Preventiongenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_000520.6(HEXA):c.806-48G>T rs73440586 0.06050
NM_000520.6(HEXA):c.1074-43C>G rs16956759 0.06040
NM_000520.6(HEXA):c.1331-46G>A rs2303448 0.04341
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.