ClinVar Miner

List of variants in gene DCC reported as likely benign for esophageal squamous cell carcinoma

Included ClinVar conditions (5):

Esophageal squamous cell carcinoma
Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, hereditary nonpolyposis, type 6
Malignant tumor of esophagus
Malignant tumor of esophagus; Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28
Mirror movements 1; Malignant tumor of esophagus; Colorectal cancer; Gaze palsy, familial horizontal, with progressive scoliosis, 2

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_005215.4(DCC):c.1062C>T (p.Val354=)	rs141716650	0.00555
NM_005215.4(DCC):c.2053+9T>C	rs186819956	0.00534
NM_005215.4(DCC):c.2158C>T (p.Leu720=)	rs138143831

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