List of variants in gene CHD8 studied for Neurodevelopmental disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001170629.2(CHD8):c.4448G>C (p.Cys1483Ser)	rs1887983148	0.00001
NM_001170629.2(CHD8):c.2364+1G>C	rs2139484699
NM_001170629.2(CHD8):c.2487-1G>C	rs2139481823
NM_001170629.2(CHD8):c.3724C>T (p.Arg1242Ter)	rs1555314788
NM_001170629.2(CHD8):c.5856_5863dup (p.Phe1955fs)	rs2501857420
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs)	rs751094013

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