ClinVar Miner

List of variants reported as pathogenic for CHARGE association by Broad Institute Rare Disease Group, Broad Institute

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.3431del (p.Leu1144fs)
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.7276del (p.Gln2426fs) rs1805723571

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