ClinVar Miner

List of variants in gene combination C2, CFB reported as likely benign for complement component 2 deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_000063.6(C2):c.1902+6G>C rs9332730 0.05089
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_001710.6(CFB):c.504G>A (p.Pro168=) rs4151669 0.03288
NM_001710.6(CFB):c.754G>A (p.Gly252Ser) rs4151651 0.02344
NM_001710.6(CFB):c.672C>T (p.Tyr224=) rs4151670 0.02070
NM_001710.6(CFB):c.1365C>T (p.Val455=) rs2072634 0.01961
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133 0.01554
NM_001710.6(CFB):c.405C>T (p.Tyr135=) rs4151650 0.01202
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_001710.6(CFB):c.858C>T (p.Phe286=) rs117905900 0.00285
NM_001710.6(CFB):c.1143C>T (p.Arg381=) rs150920440 0.00175
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391 0.00154
NM_000063.6(C2):c.1778G>A (p.Arg593Gln) rs150878060 0.00133
NM_001710.6(CFB):c.221G>A (p.Arg74His) rs117314762 0.00019
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) rs573509224 0.00001
NM_001710.6(CFB):c.1524C>T (p.His508=) rs138207668

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