List of variants reported as uncertain significance for Primary hyperoxaluria type 3 by Counsyl

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_138413.4(HOGA1):c.745C>G (p.Gln249Glu)	rs368276974	0.00004
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup)	rs777828182	0.00003
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)	rs267606762	0.00002
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly)	rs796052084	0.00001
NM_138413.4(HOGA1):c.398C>T (p.Ala133Val)	rs374367160	0.00001
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr)	rs777601935	0.00001
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala)	rs779492256	0.00001
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val)	rs772722925
NM_138413.4(HOGA1):c.22TCT[1] (p.Ser9del)	rs1554872338
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys)	rs150702945
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr)	rs374327791
NM_138413.4(HOGA1):c.713del (p.Gly238fs)	rs760930050
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser)	rs886047518
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del)	rs750736378

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.