ClinVar Miner

List of variants reported as uncertain significance for CFHR5 deficiency by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys) rs201084185 0.00017
NM_030787.4(CFHR5):c.431A>G (p.Lys144Arg) rs201787238 0.00014
NM_030787.4(CFHR5):c.608-3T>A rs375481393 0.00013
NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr) rs138834145 0.00009
NM_030787.4(CFHR5):c.1304G>A (p.Arg435Gln) rs776538115 0.00005
NM_030787.4(CFHR5):c.1369A>G (p.Asn457Asp) rs371283133 0.00005
NM_030787.4(CFHR5):c.665T>C (p.Ile222Thr) rs780116839 0.00004
NM_030787.4(CFHR5):c.1699A>G (p.Ile567Val) rs915090892 0.00002
NM_030787.4(CFHR5):c.1195C>T (p.Gln399Ter) rs772780646 0.00001
NM_030787.4(CFHR5):c.583T>A (p.Ser195Thr) rs318240755 0.00001
NM_030787.4(CFHR5):c.1225del (p.Asp409fs) rs771972507
NM_030787.4(CFHR5):c.178G>C (p.Val60Leu) rs370641856
NM_030787.4(CFHR5):c.1A>G (p.Met1Val) rs1653430949
NM_030787.4(CFHR5):c.206G>A (p.Arg69His) rs375843181
NM_030787.4(CFHR5):c.427A>C (p.Thr143Pro) rs138529008
NM_030787.4(CFHR5):c.646_647inv (p.Asn216Phe)
NM_030787.4(CFHR5):c.647A>T (p.Asn216Ile) rs147488267

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.