List of variants in gene HPS1 reported as benign by PreventionGenetics, part of Exact Sciences

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.636C>T (p.Leu212=)	rs1801287	0.25851
NM_000195.5(HPS1):c.1599-15A>G	rs2296435	0.21496
NM_000195.5(HPS1):c.1397+7G>C	rs2296432	0.20947
NM_000195.5(HPS1):c.1397+8G>T	rs2296433	0.20935
NM_000195.5(HPS1):c.399-35G>A	rs11591594	0.12488
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg)	rs2296436	0.09989
NM_000195.5(HPS1):c.1335+48G>A	rs41317034	0.09953
NM_000195.5(HPS1):c.297C>T (p.Thr99=)	rs11539873	0.04930
NM_000195.5(HPS1):c.987+13T>C	rs12571249	0.04438
NM_000195.5(HPS1):c.1698G>A (p.Ser566=)	rs148450315	0.00596
NM_000195.5(HPS1):c.597C>T (p.Pro199=)	rs113520308	0.00382
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)	rs112337765	0.00297
NM_000195.5(HPS1):c.952C>G (p.Leu318Val)	rs201808262	0.00076
NM_000195.5(HPS1):c.1397+7_1397+8delinsCT	rs886038270
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg)	rs2296434
NM_000195.5(HPS1):c.1527C>G (p.Leu509=)	rs17109850
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp)	rs11592273

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.