ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_001349896.1(HPS4):c.-185A>G rs188205202
NM_001349896.1(HPS4):c.-395A>C rs147631281
NM_001349896.1(HPS4):c.-494T>G rs187762406
NM_001349896.1(HPS4):c.-570G>T rs753668169
NM_022081.5(HPS4):c.15C>T (p.Thr5=) rs144622501
NM_152841.2(HPS4):c.*1253G>A rs534586940
NM_152841.2(HPS4):c.*1850G>A
NM_152841.2(HPS4):c.*751G>A rs190837977
NM_152841.2(HPS4):c.1045_1046delinsAG (p.Ser349=) rs386820399
NM_152841.2(HPS4):c.1685C>T (p.Ala562Val) rs140234219
NM_152841.2(HPS4):c.1868G>A (p.Arg623His) rs78892693
NM_152841.2(HPS4):c.235A>G (p.Ile79Val) rs149830675
NM_152841.2(HPS4):c.695C>T (p.Ala232Val) rs77597168
NM_152841.2(HPS4):c.736A>T (p.Thr246Ser) rs34962745

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.