ClinVar Miner

List of variants reported as likely benign for Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas; Juvenile polyposis syndrome

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.1140-10T>C	rs186332162	0.00221
NM_005359.6(SMAD4):c.1125C>T (p.Ala375=)	rs1060504023

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