ClinVar Miner

List of variants in gene CFH reported as uncertain significance for atypical hemolytic uremic syndrome with complement gene abnormality

Included ClinVar conditions (10):

Afibrinogenemia; Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13
Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with B factor anomaly
Atypical hemolytic-uremic syndrome with B factor anomaly; Age related macular degeneration 14; Complement factor b deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Atypical hemolytic-uremic syndrome with I factor anomaly
Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding 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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000186.4(CFH):c.1114A>G (p.Ile372Val)	rs1370184894	0.00001
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu)	rs1450633243	0.00001

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