ClinVar Miner

List of variants in gene combination C2, CFB reported as likely benign for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133 0.01554
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_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595 0.00105
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012 0.00031
NM_000063.6(C2):c.2080-8T>C rs201806170 0.00022
NM_001710.6(CFB):c.221G>A (p.Arg74His) rs117314762 0.00019
NM_000063.6(C2):c.1577A>G (p.Lys526Arg) rs146054348 0.00011
NM_000063.6(C2):c.*304A>G rs72842444 0.00006
NM_000063.6(C2):c.1529G>A (p.Arg510His) rs45476300 0.00006
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) rs573509224 0.00001

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