ClinVar Miner

List of variants reported as pathogenic for CHARGE association by Center for Human Genetics, Inc,Center for Human Genetics, Inc

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Total variants: 5
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NM_017780.4(CHD7):c.1294del (p.His432fs) rs1554581646
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter) rs1360515765
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.8744dup (p.Leu2916fs) rs1554607313

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