ClinVar Miner

List of variants reported as likely benign for generalized juvenile polyposis/juvenile polyposis coli by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (5):

Generalized juvenile polyposis/juvenile polyposis coli
Generalized juvenile polyposis/juvenile polyposis coli; Hereditary hemorrhagic telangiectasia
Generalized juvenile polyposis/juvenile polyposis coli; Polyposis syndrome, hereditary mixed, 2
Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.455-6A>G	rs181178864	0.00269
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)	rs1801250	0.00228

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