List of variants reported as pathogenic for complement factor I deficiency

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000204.5(CFI):c.772G>A (p.Ala258Thr)	rs199688124	0.00014
NM_000204.5(CFI):c.1429+1G>C	rs368555424	0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)	rs368615806	0.00004
NM_000204.5(CFI):c.80_81del (p.Asp27fs)	rs886043418	0.00003
NM_005141.5(FGB):c.139C>T (p.Arg47Ter)	rs121909625	0.00003
NM_000204.5(CFI):c.728G>A (p.Gly243Asp)	rs121964916	0.00001
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs)	rs758049059
NM_000204.5(CFI):c.1253A>T (p.His418Leu)	rs121964912
NM_000204.5(CFI):c.1450_1454del (p.Leu484fs)	rs752767269
NM_000204.5(CFI):c.162C>G (p.Cys54Trp)	rs1553915717
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC	rs2126214430
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)	rs121913087

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