ClinVar Miner

List of variants studied for Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055 0.00007
NM_000064.4(C3):c.2951-5_2951-3del rs544122376
NM_000064.4(C3):c.4947C>T (p.Leu1649=)

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