ClinVar Miner

List of variants reported as pathogenic for CHARGE association by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

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Total variants: 4
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NM_017780.4(CHD7):c.2442+5G>C rs387906271
NM_017780.4(CHD7):c.2520G>A (p.Trp840Ter) rs1586379156
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter) rs587783446
NM_017780.4(CHD7):c.635del (p.Gln212fs) rs1586249038

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