ClinVar Miner

List of variants reported as pathogenic for CHARGE association by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 3
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NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1513C>T (p.Gln505Ter) rs1554581757
NM_017780.4(CHD7):c.4203_4204del (p.His1401fs)

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