List of variants reported as likely benign for Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 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_000278.5(PAX2):c.213-8C>T	rs369615430	0.00101
NM_000278.5(PAX2):c.819G>C (p.Leu273=)	rs144433354	0.00090
NM_000278.5(PAX2):c.212+12G>A	rs546505132	0.00048
NM_000278.5(PAX2):c.354C>T (p.Leu118=)	rs142934523	0.00040
NM_000278.5(PAX2):c.963C>T (p.His321=)	rs138750534	0.00024
NM_000278.5(PAX2):c.496+9G>T	rs577483360	0.00016
NM_000278.5(PAX2):c.411-11C>T	rs541291517	0.00012
NM_000278.5(PAX2):c.528C>T (p.Ser176=)	rs369240774	0.00006
NM_000278.5(PAX2):c.954C>T (p.Tyr318=)	rs78122364	0.00003
NM_000278.5(PAX2):c.1021+137C>T	rs1848496928	0.00001
NM_000278.5(PAX2):c.450G>A (p.Thr150=)	rs1386529275	0.00001
NM_000278.5(PAX2):c.477C>T (p.Thr159=)	rs201775091	0.00001
NM_000278.5(PAX2):c.735T>C (p.Phe245=)	rs746316295	0.00001
NM_000278.5(PAX2):c.240G>A (p.Pro80=)	rs576772135

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.