List of variants in gene CFH reported as pathogenic for immune system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)	rs121913059	0.00019
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)	rs150694809	0.00002
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)	rs757785149	0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)	rs460184	0.00001
NM_000186.4(CFH):c.1126C>T (p.Gln376Ter)	rs1573026975
NM_000186.4(CFH):c.1318_1327del (p.Pro440fs)	rs1558162157
NM_000186.4(CFH):c.1574G>A (p.Trp525Ter)	rs1328357943
NM_000186.4(CFH):c.1609del (p.His537fs)
NM_000186.4(CFH):c.2397del (p.Glu800fs)	rs1131690796
NM_000186.4(CFH):c.245-1G>C
NM_000186.4(CFH):c.2535dup (p.Gln846fs)	rs1573076111
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)	rs121913057
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg)	rs886039869
NM_000186.4(CFH):c.3134-2A>G	rs1300996807
NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter)	rs1652987369
NM_000186.4(CFH):c.3493+1G>A	rs1387205085
NM_000186.4(CFH):c.3493+2T>C	rs1652989506
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)	rs460897
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly)	rs121913051
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer)	rs1553273733

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