List of variants in gene HPS1 reported as likely benign for not specified

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.11T>C (p.Val4Ala)	rs58548334	0.03653
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp)	rs7914192	0.00426
NM_000195.5(HPS1):c.*12C>T	rs112544050	0.00352
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp)	rs142893758	0.00290
NM_000195.5(HPS1):c.678C>T (p.Ala226=)	rs539822608	0.00155
NM_000195.5(HPS1):c.680G>T (p.Ser227Ile)	rs548033666	0.00155
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)	rs139061260	0.00144
NM_000195.5(HPS1):c.669-17T>C	rs201014731	0.00143
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)	rs148978269	0.00133
NM_000195.5(HPS1):c.557C>T (p.Ala186Val)	rs1801286	0.00125
NM_000195.5(HPS1):c.507+13C>T	rs371779884	0.00022
NM_000195.5(HPS1):c.1599-7C>A	rs746169154	0.00010
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln)	rs147125175	0.00007
NM_000195.5(HPS1):c.1167G>A (p.Ala389=)	rs775117501	0.00004
NM_000195.5(HPS1):c.1239G>T (p.Pro413=)	rs777125097	0.00003
NM_000195.5(HPS1):c.2052C>T (p.Ala684=)	rs576260502	0.00002
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)	rs1554892764
NM_000195.5(HPS1):c.848G>C (p.Gly283Ala)	rs74154475

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.