List of variants in gene CHD8 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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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.1744C>T (p.Arg582Ter)	rs863224857
NM_001170629.2(CHD8):c.2795C>G (p.Ser932Ter)	rs1888277745
NM_001170629.2(CHD8):c.3002C>G (p.Ser1001Ter)	rs1888229658
NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter)	rs1085307794
NM_001170629.2(CHD8):c.5365del (p.Ile1789fs)
NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter)	rs55884219
NM_001170629.2(CHD8):c.5607del (p.Asp1870fs)

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