ClinVar Miner

List of variants in gene SMAD4 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 9
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HGVS dbSNP
NM_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.5(SMAD4):c.1140-2A>C rs1568208715
NM_005359.5(SMAD4):c.1308+1G>A rs587781618
NM_005359.5(SMAD4):c.1309-1G>A rs1555687377
NM_005359.5(SMAD4):c.1447+2T>C rs1060500740
NM_005359.5(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005359.5(SMAD4):c.1512delT (p.Phe505Leufs) rs864622252
NM_005359.5(SMAD4):c.454+2T>C rs1555685248
NM_005359.5(SMAD4):c.955+1delG rs1555686086

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