List of variants reported as likely pathogenic for Hypotrichosis 8

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys)	rs121434309	0.00001
NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu)	rs115596308	0.00001
NM_001162498.3(LPAR6):c.188A>T (p.Asp63Val)	rs879255262
NM_001162498.3(LPAR6):c.255del (p.Asp86fs)
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs)	rs1566212378
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)	rs121434308
NM_001162498.3(LPAR6):c.463C>T (p.Gln155Ter)	rs121434306
NM_001162498.3(LPAR6):c.562A>T (p.Ile188Phe)	rs121434307
NM_001162498.3(LPAR6):c.736A>G (p.Asn246Asp)
NM_001162498.3(LPAR6):c.742A>T (p.Asn248Tyr)	rs2542256275
NM_001162498.3(LPAR6):c.787_788del (p.Cys263fs)
NM_001162498.3(LPAR6):c.830T>C (p.Leu277Pro)	rs2542255397
NM_001162498.3(LPAR6):c.833G>A (p.Cys278Tyr)	rs1948803416
NM_001162498.3(LPAR6):c.924del (p.Val309fs)	rs2542254523

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.