ClinVar Miner

Variants in gene CHD8 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463
NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del) rs757502536
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839
NM_001170629.2(CHD8):c.4921+5G>A rs377595194
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) rs766317271
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090
NM_001170629.2(CHD8):c.7253G>A (p.Arg2418Gln) rs573063062

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