ClinVar Miner

List of variants reported as likely benign for CFHR5 deficiency by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030787.4(CFHR5):c.507C>T (p.Asp169=) rs34533956 0.01500
NM_030787.4(CFHR5):c.254-8T>G rs114023763 0.01451
NM_030787.4(CFHR5):c.330A>C (p.Val110=) rs61745675 0.01447
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) rs12097550 0.01068
NM_030787.4(CFHR5):c.465T>C (p.Asn155=) rs139260377 0.00034
NM_030787.4(CFHR5):c.508G>A (p.Val170Met) rs201073457 0.00019
NM_030787.4(CFHR5):c.1116C>T (p.Asn372=) rs556270179 0.00009
NM_030787.4(CFHR5):c.846G>A (p.Pro282=) rs754917131 0.00004
NM_030787.4(CFHR5):c.1155G>T (p.Arg385Ser) rs141358257 0.00001

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.