ClinVar Miner

List of variants in gene combination C2, CFB reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000063.6(C2):c.*304A>G rs72842444
NM_000063.6(C2):c.1360+1G>A rs140225293
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012
NM_000063.6(C2):c.1529G>A (p.Arg510His) rs45476300
NM_000063.6(C2):c.1778G>A (p.Arg593Gln) rs150878060
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) rs573509224
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391
NM_000063.6(C2):c.2080-8T>C rs201806170
NM_001710.5(CFB):c.1137C>T (p.Arg379=) rs45600936
NM_001710.5(CFB):c.1143C>T (p.Arg381=) rs150920440
NM_001710.5(CFB):c.1524C>T (p.His508=) rs138207668
NM_001710.5(CFB):c.1598A>G (p.Lys533Arg) rs149101394
NM_001710.5(CFB):c.221G>A (p.Arg74His) rs117314762
NM_001710.5(CFB):c.26T>A (p.Leu9His) rs4151667
NM_001710.5(CFB):c.405C>T (p.Tyr135=) rs4151650
NM_001710.5(CFB):c.504G>A (p.Pro168=) rs4151669
NM_001710.5(CFB):c.600C>T (p.Ser200=) rs113197809
NM_001710.5(CFB):c.672C>T (p.Tyr224=) rs4151670
NM_001710.5(CFB):c.754G>A (p.Gly252Ser) rs4151651
NM_001710.5(CFB):c.858C>T (p.Phe286=) rs117905900

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