List of variants in gene combination C2, CFB reported as uncertain significance for immune system disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
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

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