ClinVar Miner

List of variants studied for esophageal squamous cell carcinoma by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_016373.4(WWOX):c.517-108230A>G	rs77067228	0.05744
NM_016373.4(WWOX):c.1134C>T (p.Asn378=)	rs201088847	0.00274

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