List of variants in gene SMAD4 reported as likely pathogenic for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.1058A>G (p.Tyr353Cys)	rs377767346
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)	rs80338965
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)	rs1568211172
NM_005359.6(SMAD4):c.1515dup (p.Val506fs)
NM_005359.6(SMAD4):c.1523del (p.Gly508fs)	rs2144478656
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs)	rs377767373
NM_005359.6(SMAD4):c.455-2A>T
NM_005359.6(SMAD4):c.803_804insCTAAGTGGTAGTA (p.Trp268delinsCysTer)	rs1909899495

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