List of variants in gene CHD8 reported as uncertain significance 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)	rs553367989	0.00019
NM_001170629.2(CHD8):c.5665C>T (p.Arg1889Cys)	rs201802014	0.00016
NM_001170629.2(CHD8):c.1320G>A (p.Ser440=)	rs898418482	0.00002
NM_001170629.2(CHD8):c.2364+2T>C	rs748109741	0.00001
NM_001170629.2(CHD8):c.1030G>A (p.Val344Met)	rs753886912
NM_001170629.2(CHD8):c.1478G>C (p.Arg493Pro)
NM_001170629.2(CHD8):c.2735G>A (p.Arg912His)
NM_001170629.2(CHD8):c.3514A>G (p.Arg1172Gly)
NM_001170629.2(CHD8):c.3772A>C (p.Ile1258Leu)	rs1888076992
NM_001170629.2(CHD8):c.5336G>A (p.Arg1779His)
NM_001170629.2(CHD8):c.5561G>A (p.Cys1854Tyr)	rs2139448400
NM_001170629.2(CHD8):c.6466A>G (p.Lys2156Glu)	rs1555313139
NM_001170629.2(CHD8):c.7252C>T (p.Arg2418Trp)
NM_001170629.2(CHD8):c.7291G>A (p.Ala2431Thr)

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