ClinVar Miner

Variants in gene HPS1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260 0.00144
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp) rs145042327 0.00065
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr) rs17109853 0.00054
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281 0.00042
NM_000195.5(HPS1):c.700C>T (p.Leu234=) rs150444975 0.00039
NM_000195.5(HPS1):c.778C>T (p.Arg260Trp) rs564590745 0.00008
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln) rs147125175 0.00007
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val) rs569192835 0.00005
NM_000195.5(HPS1):c.1531C>A (p.Arg511=) rs147748659
NM_000195.5(HPS1):c.1653T>G (p.Thr551=) rs765995574
NM_000195.5(HPS1):c.1744-5C>T rs369429846
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val) rs1554892764

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.