ClinVar Miner

List of variants in gene CFH reported as benign for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000186.3(CFH):c.*178T>A rs488738
NM_000186.3(CFH):c.-195T>C rs35836460
NM_000186.3(CFH):c.1160-15T>C rs34815383
NM_000186.3(CFH):c.1204C>T (p.His402Tyr) rs1061170
NM_000186.3(CFH):c.1419G>A (p.Ala473=) rs2274700
NM_000186.3(CFH):c.184G>A (p.Val62Ile) rs800292
NM_000186.3(CFH):c.2016A>G (p.Gln672=) rs3753396
NM_000186.3(CFH):c.2669G>T (p.Ser890Ile) rs515299
NM_000186.3(CFH):c.2808G>T (p.Glu936Asp) rs1065489
NM_000186.3(CFH):c.3019G>T (p.Val1007Leu) rs534399
NM_000186.3(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.3(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000186.3(CFH):c.921A>C (p.Ala307=) rs1061147

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.