ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome without pulmonary fibrosis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000096.4(CP):c.*259C>T
NM_000096.4(CP):c.*879A>C rs144029944
NM_024747.5(HPS6):c.105T>C (p.Arg35=) rs573488604
NM_024747.5(HPS6):c.1779G>A (p.Pro593=) rs77529785
NM_024747.5(HPS6):c.632G>C (p.Gly211Ala) rs200584437
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys)
NM_032383.5(HPS3):c.*170C>T rs182666670
NM_032383.5(HPS3):c.1228A>G (p.Met410Val)
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_181507.1(HPS5):c.*362G>A rs148862838
NM_181507.1(HPS5):c.*688A>G rs145507598
NM_181507.1(HPS5):c.*70C>T rs371535842
NM_181507.1(HPS5):c.1900G>A (p.Glu634Lys) rs143204089
NM_181507.1(HPS5):c.240C>T (p.Val80=) rs138423875
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser)
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys)
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823
NM_181507.2(HPS5):c.1785-13C>T rs73430857
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493

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.