ClinVar Miner

List of variants in gene CHD8 reported by Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.2364+1G>C rs2139484699
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001170629.2(CHD8):c.3724C>T (p.Arg1242Ter) rs1555314788
NM_001170629.2(CHD8):c.4115del (p.Asn1372fs) rs1888033166
NM_001170629.2(CHD8):c.4468_4469insA (p.Cys1490Ter) rs1555314378
NM_001170629.2(CHD8):c.5856_5863dup (p.Phe1955fs)
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs) rs751094013

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