ClinVar Miner

List of variants reported as likely pathogenic for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome by Solve-RD Consortium

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	rs397518413	0.00001
NM_005359.6(SMAD4):c.1231_1232del (p.Ser411fs)	rs730881952
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)	rs80338965

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