ClinVar Miner

List of variants studied for Congenital cataracts-facial dysmorphism-neuropathy syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004715.5(CTDP1):c.492+7C>T rs115851227 0.01593
NM_004715.5(CTDP1):c.2070C>T (p.Gly690=) rs145726709 0.00262
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg) rs149090172 0.00103

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