List of variants in gene C2, CFB studied for hematologic disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 26

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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_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_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
NM_001710.6(CFB):c.1524C>T (p.His508=)	rs138207668

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