List of variants in gene CHD8 studied for Autism spectrum 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter)	rs1454466097	0.00001
NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys)	rs371294659	0.00001
NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)
NM_001170629.2(CHD8):c.2345del (p.His782fs)	rs886039692
NM_001170629.2(CHD8):c.2365-10T>G
NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter)	rs1131691548
NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val)	rs1064795655
NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile)	rs1888123647
NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)
NM_001170629.2(CHD8):c.3519-2A>G	rs1594344233
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs)	rs774152851
NM_001170629.2(CHD8):c.7508A>C (p.His2503Pro)
NM_001170629.2(CHD8):c.7638TGA[2] (p.Asp2549del)

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