List of variants in gene HEXB reported as benign for central nervous system disorder

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

Total variants: 21

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser)	rs820878	0.97243
NM_000521.4(HEXB):c.558+45G>A	rs1665894	0.89050
NM_000521.4(HEXB):c.-126C>T	rs71627068	0.55186
NM_000521.4(HEXB):c.-122del	rs70976124	0.55177
NM_000521.4(HEXB):c.300-32C>T	rs35711978	0.23197
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)	rs11556045	0.20835
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)	rs10805890	0.12644
NM_000521.4(HEXB):c.772-4A>G	rs17561000	0.06806
NM_000521.4(HEXB):c.-175G>A	rs73117116	0.03911
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu)	rs820878	0.02757
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn)	rs148268937	0.00967
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val)	rs77499935	0.00923
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)	rs147155126	0.00758
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)	rs114661695	0.00596
NM_000521.4(HEXB):c.276C>T (p.Thr92=)	rs140509633	0.00569
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)	rs121907984	0.00012
NM_000521.4(HEXB):c.1243-6T>C	rs759404927	0.00004
NM_000521.4(HEXB):c.1170-11del
NM_000521.4(HEXB):c.1170-11dup
NM_000521.4(HEXB):c.446-16dup
NM_000521.4(HEXB):c.512-112T>G	rs1696979

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.