ClinVar Miner

List of variants in gene CFH reported as benign for age-related macular degeneration

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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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.59-36C>T rs551397 0.40527
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.*178T>A rs488738 0.08528
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_000186.3(CFH):c.-195T>C rs35836460 0.04685
NM_000186.4(CFH):c.1160-15T>C rs34815383 0.03666
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.1652T>C (p.Ile551Thr) rs35453854 0.01591
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_000186.4(CFH):c.1428A>G (p.Gln476=) rs34399588 0.01440
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_000186.4(CFH):c.3102T>C (p.Asn1034=) rs34594237 0.00750
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_000186.4(CFH):c.-36G>C rs140356702 0.00418
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_000186.4(CFH):c.807T>C (p.Asn269=) rs757654697 0.00004
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000186.4(CFH):c.245-11_245-9dup rs35507625
NM_000186.4(CFH):c.245-9del rs35507625
NM_000186.4(CFH):c.245-9dup rs35507625
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000186.4(CFH):c.350+15C>T rs190197472

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