ClinVar Miner

List of variants reported as pathogenic for esophageal squamous cell carcinoma by Fulgent Genetics, Fulgent Genetics

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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)	rs756762196	0.00002
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)	rs104893819
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)

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