ClinVar Miner

List of variants reported as pathogenic for Factor H deficiency by OMIM

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Total variants: 7
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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.1291T>A (p.Cys431Ser) rs121913056
NM_000186.4(CFH):c.1606T>C (p.Cys536Arg) rs121913052
NM_000186.4(CFH):c.2876G>A (p.Cys959Tyr) rs121913053
NM_000186.4(CFH):c.380G>T (p.Arg127Leu) rs121913058
NM_000186.4(CFH):c.565G>T (p.Glu189Ter) rs121913054
NM_000186.4(CFH):c.668AGA[1] (p.Lys224del) rs796052138

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