ClinVar Miner

List of variants in gene CFH reported as benign by Genome Diagnostics Laboratory, The Hospital for Sick Children

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_000186.4(CFH):c.921A>C (p.Ala307=) rs1061147 0.61990
NM_000186.4(CFH):c.1419G>A (p.Ala473=) rs2274700 0.43407
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_000186.4(CFH):c.2016A>G (p.Gln672=) rs3753396 0.14639
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr) rs35453854 0.01591
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_000186.4(CFH):c.1337-8595C>T
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181

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.