ClinVar Miner

List of variants reported as pathogenic for CHARGE association by Center for Molecular Medicine, Children’s Hospital of Fudan University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.7803C>A (p.Tyr2601Ter) rs1563669432

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