ClinVar Miner

List of variants reported as likely pathogenic for Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000204.5(CFI):c.772G>A (p.Ala258Thr)	rs199688124	0.00014
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter)	rs752671716
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter)	rs2126178088

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