ClinVar Miner

List of variants in gene SMAD4 reported as likely benign for Hereditary hemorrhagic telangiectasia type 1

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Total variants: 8
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NM_005359.5(SMAD4):c.*4587_*4590delGAGA rs374333786
NM_005359.5(SMAD4):c.*6586C>T rs534182161
NM_005359.5(SMAD4):c.*6588C>G rs186324049
NM_005359.6(SMAD4):c.*1169_*1173del rs138404813
NM_005359.6(SMAD4):c.*2968del rs574286440
NM_005359.6(SMAD4):c.*3878dup rs373831598
NM_005359.6(SMAD4):c.*4867dup rs571773833
NM_005359.6(SMAD4):c.*6353del rs573785159

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