ClinVar Miner

List of variants studied for Leber congenital amaurosis by Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006431.3(CCT2):c.1198A>C (p.Thr400Pro)
NM_006431.3(CCT2):c.1547G>A (p.Arg516His)

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