List of variants reported as risk factor for complement deficiency

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000361.3(THBD):c.127G>A (p.Ala43Thr)	rs1800576	0.00255
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)	rs1800578	0.00057
NM_000204.5(CFI):c.355G>A (p.Gly119Arg)	rs141853578	0.00040
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)	rs121913059	0.00019
NM_000204.5(CFI):c.949C>T (p.Arg317Trp)	rs121964917	0.00006
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter)	rs121964913	0.00003
NM_000186.4(CFH):c.3514G>T (p.Glu1172Ter)	rs121913060	0.00001
NM_000204.5(CFI):c.1555G>A (p.Asp519Asn)	rs121964918	0.00001
NM_000361.3(THBD):c.158A>G (p.Asp53Gly)	rs121918667	0.00001
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr)	rs121909591	0.00001
NM_172351.3(CD46):c.175C>T (p.Arg59Ter)	rs121909590	0.00001
NM_172351.3(CD46):c.718T>C (p.Ser240Pro)	rs121909589	0.00001
NM_172351.3(CD46):c.98-1G>C	rs1441937053	0.00001
NM_000064.4(C3):c.1775G>A (p.Arg592Gln)	rs121909583
NM_000064.4(C3):c.2562C>G (p.Tyr854Ter)	rs121909586
NM_000064.4(C3):c.3281C>T (p.Ala1094Val)	rs121909584
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn)	rs121909585
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)	rs121913057
NM_000186.4(CFH):c.3566T>G (p.Leu1189Arg)	rs121913055
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)	rs460897
NM_000186.4(CFH):c.3592G>T (p.Glu1198Ter)	rs121913063
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly)	rs121913051
NM_000186.4(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa)	rs796052136
NM_000186.4(CFH):c.83_86del (p.Arg28fs)	rs796052137
NM_000204.5(CFI):c.1571A>T (p.Asp524Val)	rs121964914
NM_000204.5(CFI):c.1637G>A (p.Trp546Ter)	rs121964915
NM_001710.6(CFB):c.858C>G (p.Phe286Leu)	rs117905900
NM_001710.6(CFB):c.967A>G (p.Lys323Glu)	rs121909748
NM_172351.3(CD46):c.800_801del (p.Thr267fs)	rs1558056827
NM_172351.3(CD46):c.811_816del (p.Asp271_Ser272del)	rs1255421232

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