List of variants in gene SMAD4 reported as pathogenic for Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)	rs377767347
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)	rs80338965
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	rs281875322

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