List of variants in gene C3 reported as likely benign for Atypical hemolytic-uremic syndrome with C3 anomaly

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000064.4(C3):c.2394C>T (p.Ser798=)	rs112178657	0.00228
NM_000064.4(C3):c.4827C>T (p.Ser1609=)	rs150537373	0.00035
NM_000064.4(C3):c.4824C>T (p.Ser1608=)	rs139457470	0.00034
NM_000064.4(C3):c.2157G>A (p.Ala719=)	rs143671993	0.00016
NM_000064.4(C3):c.681C>T (p.Tyr227=)	rs756694755	0.00012
NM_000064.4(C3):c.4535G>A (p.Arg1512His)	rs142868256	0.00009
NM_000064.4(C3):c.2207G>A (p.Arg736Gln)	rs578116271	0.00007
NM_000064.4(C3):c.1098A>G (p.Pro366=)	rs757883156	0.00006
NM_000064.4(C3):c.1119+10G>A	rs752328639	0.00006
NM_000064.4(C3):c.4471C>T (p.Arg1491Trp)	rs140928439	0.00006
NM_000064.4(C3):c.3953T>G (p.Leu1318Arg)	rs769873702	0.00005
NM_000064.4(C3):c.1164C>T (p.Pro388=)	rs769368306	0.00003
NM_000064.4(C3):c.1296G>A (p.Ser432=)	rs760150621	0.00001
NM_000064.4(C3):c.4850+12C>A	rs748416799	0.00001
NM_000064.4(C3):c.4941G>A (p.Gln1647=)	rs780251209	0.00001
NM_000064.4(C3):c.4645C>T (p.Leu1549=)	rs149202905
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser)	rs746985605

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.