ClinVar Miner

List of variants in gene SMAD4 reported as pathogenic for Neoplasm of the large intestine

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Total variants: 8
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HGVS dbSNP
NM_005359.5(SMAD4):c.1051G>A (p.Asp351Asn) rs1057519739
NM_005359.5(SMAD4):c.1051G>C (p.Asp351His) rs1057519739
NM_005359.5(SMAD4):c.1065C>A (p.Asp355Glu) rs1057519740
NM_005359.5(SMAD4):c.1081C>A (p.Arg361Ser) rs80338963
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1609G>T (p.Asp537Tyr) rs1057519741
NM_005359.5(SMAD4):c.989A>C (p.Glu330Ala) rs281875324

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