ClinVar Miner

List of variants in gene CFH reported as likely pathogenic for Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261

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