List of variants studied for Hermansky-Pudlak syndrome 8

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=)	rs758506	0.13313
NM_212550.5(BLOC1S3):c.449A>G (p.Gln150Arg)	rs948696809	0.00014
NM_212550.5(BLOC1S3):c.131C>A (p.Ser44Ter)	rs281865115	0.00003
NM_212550.5(BLOC1S3):c.335G>T (p.Arg112Leu)	rs1021933564	0.00001
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs)	rs1568469902
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs)	rs1969482515
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del)	rs754841982
NM_212550.5(BLOC1S3):c.448del (p.Gln150fs)	rs281865116
NM_212550.5(BLOC1S3):c.505G>T (p.Ala169Ser)	rs200799185
NM_212550.5(BLOC1S3):c.86G>T (p.Arg29Leu)

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.