List of variants in gene SMAD4 reported as pathogenic for digestive system cancer

Minimum submission review status:		Collection method:
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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.1072G>T (p.Gly358Ter)	rs121912576
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)	rs377767347
NM_005359.6(SMAD4):c.1233_1249del (p.Ser411fs)
NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter)	rs121912577
NM_005359.6(SMAD4):c.1241del (p.Tyr413_Leu414insTer)	rs1910183166
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)	rs80338965
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)	rs377767360
NM_005359.6(SMAD4):c.1477G>C (p.Asp493His)	rs121912578
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	rs281875322
NM_005359.6(SMAD4):c.1543A>T (p.Arg515Ter)	rs121912579
NM_005359.6(SMAD4):c.667+1G>C
NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter)	rs2144427253

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