ClinVar Miner

List of variants reported as benign for atypical hemolytic-uremic syndrome by Mendelics

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_172351.3(CD46):c.1013C>T (p.Ala338Val)	rs35366573	0.01505
NM_000064.4(C3):c.1407G>C (p.Glu469Asp)	rs11569422	0.01362
NM_000204.5(CFI):c.1217G>A (p.Arg406His)	rs74817407	0.00599

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