ClinVar Miner

List of variants in gene CHD7 reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp) rs398124324 0.00004
NM_017780.4(CHD7):c.3431del (p.Leu1144fs)
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.7276del (p.Gln2426fs) rs1805723571

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