List of variants reported as likely benign for juvenile nephropathic cystinosis by Fulgent Genetics, Fulgent Genetics

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_004937.3(CTNS):c.327C>T (p.Thr109=)	rs150554216	0.00141
NM_004937.3(CTNS):c.562-20T>C	rs764063960	0.00042
NM_004937.3(CTNS):c.684C>T (p.Arg228=)	rs762346133	0.00009
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser)	rs200313254	0.00006
NM_004937.3(CTNS):c.225+19C>T	rs550960394	0.00005
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)	rs187396540	0.00005
NM_004937.3(CTNS):c.1035C>T (p.Phe345=)	rs149007536	0.00004
NM_004937.3(CTNS):c.1038C>T (p.Asp346=)	rs771450572	0.00004
NM_004937.3(CTNS):c.562-16C>T	rs776712980	0.00004
NM_004937.3(CTNS):c.831G>T (p.Thr277=)	rs533147998	0.00003
NM_004937.3(CTNS):c.61+20G>A	rs760019018	0.00002
NM_004937.3(CTNS):c.729C>T (p.Leu243=)	rs762142619	0.00001
NM_004937.3(CTNS):c.822C>T (p.Leu274=)	rs150773117	0.00001
NM_004937.3(CTNS):c.141-8C>T	rs768912772

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.