ClinVar Miner

Variants in gene CFH with conflicting interpretations "pathogenic" and "risk factor"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (risk factor) minimum review status: Submission 2 (risk factor) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 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.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897

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