ClinVar Miner

List of variants in gene CFH reported as pathogenic for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.1204= (p.His402=) rs1061170 0.36375
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser) rs121913062 0.00004
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 0.00002
NM_000186.4(CFH):c.1222C>T (p.Gln408Ter) rs121913061
NM_000186.4(CFH):c.350+6T>G rs387906550
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897

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