ClinVar Miner

List of variants in gene CFH reported as pathogenic for anemia (disease)

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000186.3(CFH):c.1126C>T (p.Gln376Ter)
NM_000186.3(CFH):c.1291T>A (p.Cys431Ser) rs121913056
NM_000186.3(CFH):c.1318_1327del (p.Pro440fs) rs1558162157
NM_000186.3(CFH):c.1606T>C (p.Cys536Arg) rs121913052
NM_000186.3(CFH):c.2397del (p.Glu800fs) rs1131690796
NM_000186.3(CFH):c.2876G>A (p.Cys959Tyr) rs121913053
NM_000186.3(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.3(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.3(CFH):c.3590T>C (p.Val1197Ala) rs460184
NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys) rs121913059
NM_000186.3(CFH):c.380G>T (p.Arg127Leu) rs121913058
NM_000186.3(CFH):c.565G>T (p.Glu189Ter) rs121913054
NM_000186.3(CFH):c.668_670AGA[1] (p.Lys224del) rs796052138
NM_000186.3(CFH):c.710_711del (p.Lys236_Cys237insTer) rs1553273733

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