List of variants reported as likely pathogenic for Cystinuria by Invitae

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His)	rs776729515	0.00001
NC_000002.11:g.(?_44508506)_(44508700_?)dup
NC_000002.11:g.(?_44508506)_(44541110_?)del
NC_000002.12:g.(?_44280696)_(44346410_?)del
NM_000341.4(SLC3A1):c.1011+3A>G	rs1206425661
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)
NM_000341.4(SLC3A1):c.430+2T>G	rs1558450604
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)
NM_000341.4(SLC3A1):c.891+2T>C	rs2104342335

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.