List of variants reported as benign for Hermansky-Pudlak syndrome 3

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: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.2887+81G>A	rs2681096	0.98243
NM_032383.5(HPS3):c.1692-192T>G	rs772903	0.70831
NM_032383.5(HPS3):c.1164-139A>C	rs2254913	0.69958
NM_032383.5(HPS3):c.1494G>A (p.Gln498=)	rs6440589	0.50726
NM_032383.5(HPS3):c.2796+50C>T	rs2681092	0.46501
NM_032383.5(HPS3):c.2107-57A>G	rs61615092	0.44604
NM_032383.5(HPS3):c.1163+62T>G	rs11715291	0.28038
NM_032383.5(HPS3):c.981A>G (p.Thr327=)	rs11718908	0.28006
NM_000096.4(CP):c.*769G>A	rs1053669	0.19723
NM_032383.5(HPS3):c.2107-52A>G	rs57943258	0.17569
NM_032383.5(HPS3):c.1164-25C>T	rs2689232	0.17519
NM_032383.5(HPS3):c.2526C>T (p.His842=)	rs3732557	0.15600
NM_032383.5(HPS3):c.*172G>A	rs34511277	0.11672
NM_032383.5(HPS3):c.*128A>G	rs73019023	0.11195
NM_032383.5(HPS3):c.1479G>A (p.Thr493=)	rs34197730	0.03245
NM_032383.5(HPS3):c.970+7A>G	rs114029765	0.02580
NM_000096.4(CP):c.*1157C>T	rs11537809	0.02347
NM_032383.5(HPS3):c.-70T>C	rs13089410	0.02214
NM_000096.4(CP):c.*768T>C	rs35805816	0.01348
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg)	rs78336249	0.01058
NM_000096.4(CP):c.*509A>C	rs13098532	0.00867
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)	rs34388030	0.00590
NM_000096.4(CP):c.*474T>C	rs34936395	0.00559
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val)	rs149640235	0.00498
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg)	rs199663930	0.00036
NM_032383.5(HPS3):c.2196C>T (p.His732=)	rs148398659	0.00028
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile)	rs150765088	0.00002

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.