ClinVar Miner

List of variants in gene CHD8 reported as likely benign by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.7297A>G (p.Met2433Val) rs376775890 0.00017
NM_001170629.2(CHD8):c.161G>T (p.Gly54Val) rs1057519411
NM_001170629.2(CHD8):c.422C>T (p.Thr141Ile) rs1889549384
NM_001170629.2(CHD8):c.4762A>T (p.Arg1588Trp) rs1057519410
NM_001170629.2(CHD8):c.7399T>A (p.Ser2467Thr) rs1887208398
NM_001170629.2(CHD8):c.7400C>A (p.Ser2467Tyr) rs1887208262
NM_001170629.2(CHD8):c.7488_7517del (p.His2500_Pro2509del) rs1348736609

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