ClinVar Miner

List of variants in gene CHD7 reported as likely pathogenic for Inborn genetic diseases

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.2613+1G>A rs587783432
NM_017780.4(CHD7):c.2958-3A>G
NM_017780.4(CHD7):c.3059T>C (p.Leu1020Ser) rs1057521077
NM_017780.4(CHD7):c.3201+1G>T rs1804103264
NM_017780.4(CHD7):c.4644+5G>T
NM_017780.4(CHD7):c.4645-1G>C
NM_017780.4(CHD7):c.5405-17G>A rs794727423

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