ClinVar Miner

List of variants reported as benign for complement component 2 deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001710.6(CFB):c.450A>G (p.Arg150=) rs1048709 0.85323
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_000063.6(C2):c.1023G>A (p.Ala341=) rs1042663 0.11857
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391

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