ClinVar Miner

List of variants reported as likely pathogenic for Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000064.4(C3):c.1775G>A (p.Arg592Gln)	rs121909583
NM_000064.4(C3):c.373dup (p.Leu125fs)	rs1337559480

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