ClinVar Miner

List of variants reported as benign for Deficiency of hyaluronoglucosaminidase by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870 0.04448
NM_033159.4(HYAL1):c.384C>T (p.Ile128=) rs116097974 0.01056
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080 0.01054
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237 0.00617
NM_033159.4(HYAL1):c.323G>A (p.Arg108His) rs56962018 0.00357
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004 0.00208
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser) rs138951582 0.00066

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.