List of variants reported as uncertain significance for Primary hyperoxaluria, type II 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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012203.2(GRHPR):c.866-2A>G	rs200316691	0.00002
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)	rs1331106064	0.00001
NM_012203.2(GRHPR):c.286_287+1del	rs750079140
NM_012203.2(GRHPR):c.403_404+1del	rs1554747007
NM_012203.2(GRHPR):c.456_464del (p.Gln153_Thr155del)	rs1243273371
NM_012203.2(GRHPR):c.865+2dup	rs1218448371
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs)	rs1554749639
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr)	rs200632069
NM_012203.2(GRHPR):c.935dup (p.Asn312fs)	rs1554749668
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs)	rs1554749672
NM_012203.2(GRHPR):c.964_965del (p.Met322fs)	rs1554749707
NM_012203.2(GRHPR):c.986A>G (p.Ter329Trp)	rs1554749727

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.