ClinVar Miner

List of variants studied for Cataract 18 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter) rs768945306 0.00001
NM_024513.4(FYCO1):c.2386C>T (p.Gln796Ter)
NM_024513.4(FYCO1):c.793dup (p.Ala265fs) rs1706240480

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