List of variants reported as pathogenic for Hermansky-Pudlak syndrome 9 by Labcorp Genetics (formerly Invitae), Labcorp

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter)	rs201348482	0.00001
NM_012388.4(BLOC1S6):c.335dup (p.His112fs)	rs762974622	0.00001
NC_000015.10:g.45592135del
NC_000015.9:g.(?_45884313)_(45898712_?)del
NM_012388.4(BLOC1S6):c.157del (p.Ala53fs)	rs2542271252
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter)	rs772475341
NM_012388.4(BLOC1S6):c.203_207del (p.Lys68fs)	rs2542271399
NM_012388.4(BLOC1S6):c.245T>A (p.Leu82Ter)	rs2542292506
NM_012388.4(BLOC1S6):c.261dup (p.Glu88fs)	rs1894328064
NM_012388.4(BLOC1S6):c.296T>A (p.Leu99Ter)	rs2542292733
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs)	rs2140918991
NM_012388.4(BLOC1S6):c.33_34del (p.Ala12fs)	rs749555560
NM_012388.4(BLOC1S6):c.7_22dup (p.Ser8fs)	rs2542261519
NM_012388.4(BLOC1S6):c.88del (p.Ser30fs)	rs1227395094
NM_012388.4(BLOC1S6):c.89del (p.Ser30fs)	rs2542270996

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.