List of variants reported as likely benign for Hermansky-Pudlak syndrome with pulmonary fibrosis by Illumina Laboratory Services, Illumina

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022081.6(HPS4):c.*1850G>A	rs143168600	0.00456
NM_000195.5(HPS1):c.*12C>T	rs112544050	0.00352
NM_000195.5(HPS1):c.*736C>T	rs149708847	0.00306
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)	rs112337765	0.00297
NM_022081.6(HPS4):c.1883G>A (p.Arg628His)	rs78892693	0.00257
NM_022081.6(HPS4):c.15C>T (p.Thr5=)	rs144622501	0.00193
NM_022081.6(HPS4):c.-185A>G	rs188205202	0.00154
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)	rs140234219	0.00153
NM_022081.6(HPS4):c.*1253G>A	rs534586940	0.00121
NM_022081.6(HPS4):c.-585T>G	rs187762406	0.00105
NM_000195.5(HPS1):c.952C>G (p.Leu318Val)	rs201808262	0.00076
NM_022081.6(HPS4):c.-395A>C	rs147631281	0.00047
NM_022081.5(HPS4):c.-661G>T	rs753668169	0.00045
NM_022081.6(HPS4):c.*751G>A	rs190837977	0.00039
NM_000195.5(HPS1):c.2052C>T (p.Ala684=)	rs576260502	0.00002
NM_000195.5(HPS1):c.-219C>G	rs574471533	0.00001

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.