ClinVar Miner

List of variants in gene CFH reported as 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.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 0.00002
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897

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