ClinVar Miner

List of variants in gene combination CP, HPS3 reported as uncertain significance for Hermansky-Pudlak syndrome 3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000096.4(CP):c.*1007T>A
NM_000096.4(CP):c.*1081T>A rs188137938
NM_000096.4(CP):c.*343A>G rs886058085
NM_000096.4(CP):c.*373C>G rs370247691
NM_000096.4(CP):c.*373C>T
NM_000096.4(CP):c.*536G>C
NM_000096.4(CP):c.*572A>G rs561191589
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*912C>G rs149920453
NM_032383.5(HPS3):c.*135T>C rs375383865
NM_032383.5(HPS3):c.*138A>T
NM_032383.5(HPS3):c.*207C>T
NM_032383.5(HPS3):c.*239G>A rs886058083
NM_032383.5(HPS3):c.*95A>C
NM_032383.5(HPS3):c.*96T>A rs879086473
NM_032383.5(HPS3):c.*98A>T
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.5(HPS3):c.2699G>A (p.Arg900His) rs202157837
NM_032383.5(HPS3):c.2887+8G>T
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser)

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.