ClinVar Miner

List of variants reported as uncertain significance for atypical hemolytic-uremic syndrome by Baylor Genetics

Included ClinVar conditions (15):

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 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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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)	rs7437875	0.00206
NM_002113.3(CFHR1):c.643G>A (p.Asp215Asn)	rs781409951	0.00002
NM_000186.4(CFH):c.506A>G (p.His169Arg)	rs768647508	0.00001
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn)	rs121909585
NM_000064.4(C3):c.4867G>T (p.Gly1623Trp)
NM_000204.5(CFI):c.227C>G (p.Ala76Gly)	rs1010351654
NM_172351.3(CD46):c.558_559delinsCC (p.Val187Leu)	rs1656184011

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