ClinVar Miner

List of variants in gene combination APC, LOC129994371 reported as pathogenic for polyposis

Included ClinVar conditions (4):

Desmoid disease, hereditary; Familial adenomatous polyposis 1; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach
Familial adenomatous polyposis 1; Gastric adenocarcinoma and proximal polyposis of the stomach; APC-related attenuated familial adenomatous polyposis
Gastric adenocarcinoma and proximal polyposis of the stomach

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_001127511.3(APC):c.-192A>G	rs879253784	0.00001
NM_001127511.2(APC):c.[-125delA;-195A>C]
NM_001127511.3(APC):c.-191T>C	rs879253783

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