ClinVar Miner

List of variants in gene CFB reported as benign for Atypical hemolytic-uremic syndrome with B factor anomaly

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001710.6(CFB):c.2140-74A>G rs2072633 0.59204
NM_001710.6(CFB):c.*23C>T rs4151672 0.03404
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) rs4151659 0.01851
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala) rs45484591 0.00913
NM_001710.6(CFB):c.1953T>G (p.Asp651Glu) rs4151660 0.00673
NM_001710.6(CFB):c.600C>T (p.Ser200=) rs113197809 0.00577
NM_001710.6(CFB):c.1778+9G>A rs188688680 0.00285
NM_001710.6(CFB):c.*47C>T rs375895797 0.00050
NM_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_001710.6(CFB):c.1548G>A (p.Val516=) rs553118090 0.00005
NM_001710.6(CFB):c.1956+10G>A rs545348156 0.00001
NM_001710.6(CFB):c.1037-10C>G rs201659953
NM_001710.6(CFB):c.1037-10C>T rs201659953

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