ClinVar Miner

List of variants studied for atypical hemolytic-uremic syndrome by 3billion, Medical Genetics

Included ClinVar conditions (17):

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
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 C3 anomaly; Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with DGKE deficiency
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
Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4
Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr)	rs121909591	0.00001
NM_000186.4(CFH):c.3449T>G (p.Ile1150Arg)	rs2149118066
NM_000186.4(CFH):c.672G>T (p.Lys224Asn)	rs1408473510
NM_172351.3(CD46):c.350_351dup (p.Glu118fs)	rs2102541856

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