ClinVar Miner

List of variants in gene CFH reported as risk factor by OMIM

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.2237-543= rs1410996 0.54454
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_000186.4(CFH):c.1204= (p.His402=) rs1061170 0.36375
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) rs570523689 0.00002
NM_000186.4(CFH):c.3514G>T (p.Glu1172Ter) rs121913060 0.00001
NM_000186.4(CFH):c.1419G>C (p.Ala473=) rs2274700
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.3566T>G (p.Leu1189Arg) rs121913055
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.4(CFH):c.3592G>T (p.Glu1198Ter) rs121913063
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly) rs121913051
NM_000186.4(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa) rs796052136
NM_000186.4(CFH):c.83_86del (p.Arg28fs) rs796052137

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