List of variants reported as likely benign for Tay-Sachs disease by Natera, Inc.

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)	rs145012038	0.00038
NM_000520.6(HEXA):c.1338T>C (p.Pro446=)	rs34085965	0.00029
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)	rs140482769	0.00019
NM_000520.6(HEXA):c.517C>T (p.Leu173=)	rs200743199	0.00017
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)	rs575121167	0.00004
NM_000520.6(HEXA):c.1230C>T (p.Ala410=)	rs751185874	0.00002
NM_000520.6(HEXA):c.1477C>T (p.Leu493=)	rs774313739	0.00001
NM_000520.6(HEXA):c.13A>C (p.Arg5=)	rs1595816387
NM_000520.6(HEXA):c.51A>C (p.Ala17=)	rs2140344816

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.