List of variants in gene SMAD4 reported as pathogenic for Hereditary cancer-predisposing 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_005359.5(SMAD4):c.(?_-538)_1139+?del
NM_005359.6(SMAD4):c.1242dup (p.Asp415fs)	rs786201200
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)	rs80338965
NM_005359.6(SMAD4):c.1258_1259dup (p.Ala421fs)	rs730881956
NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter)	rs587781359
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs)	rs587780124
NM_005359.6(SMAD4):c.383_384del (p.Val128fs)
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter)	rs377767326
NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter)	rs1449334786
NM_005359.6(SMAD4):c.692dup (p.Ser232fs)	rs377767334
NM_005359.6(SMAD4):c.886_895del (p.Pro296fs)	rs869312781

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