ClinVar Miner

List of variants in gene CFH reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.965-53G>T rs482934 0.69256
NM_000186.4(CFH):c.2414-28C>A rs375046 0.67392
NM_000186.4(CFH):c.1520-98G>T rs203674 0.65618
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.64500
NM_000186.4(CFH):c.921A>C (p.Ala307=) rs1061147 0.62995
NM_000186.4(CFH):c.1419G>A (p.Ala473=) rs2274700 0.44002
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_000186.4(CFH):c.59-36C>T rs551397 0.39930
NM_000186.4(CFH):c.1520-148A>G rs6677460 0.23225
NC_000001.11:g.196651787C>T rs3753394 0.22813
NM_000186.4(CFH):c.2957-89T>C rs16840522 0.22570
NM_000186.4(CFH):c.1520-149C>T rs6664877 0.19744
NM_000186.4(CFH):c.2237-188C>T rs1329429 0.18842
NM_000186.4(CFH):c.2956+235C>T rs11582939 0.15695
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_000186.4(CFH):c.620-140C>T rs12127759 0.14606
NM_000186.4(CFH):c.3310+144C>T rs35352142 0.14083
NM_000186.4(CFH):c.*178T>A rs488738 0.08528
NM_000186.4(CFH):c.2957-215T>G rs385892 0.07912
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.07904
NM_000186.4(CFH):c.2414-68T>G rs435628 0.07232
NM_000186.4(CFH):c.3494-125T>C rs536564 0.06240
NM_000186.4(CFH):c.2957-88A>G rs385543 0.05939
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.05928
NM_000186.4(CFH):c.3494-134C>T rs493367 0.05855
NM_000186.4(CFH):c.3494-116T>C rs536539 0.05815
NM_000186.3(CFH):c.-195T>C rs35836460 0.04685
NM_000186.4(CFH):c.3493+174C>T rs491480 0.04436
NM_000186.4(CFH):c.2596+64C>T rs428060 0.04093
NM_000186.4(CFH):c.1160-15T>C rs34815383 0.03666
NM_000186.4(CFH):c.58+204T>A rs520992 0.03608
NM_000186.4(CFH):c.1519+97A>G rs203678 0.03362
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118
NM_000186.4(CFH):c.*98C>T rs35742764 0.01872
NM_000186.4(CFH):c.58+150T>C rs55747351 0.01158
NM_000186.4(CFH):c.1159+161G>A rs12029785
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu) rs15809

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.