ClinVar Miner

List of variants reported as likely benign for Juvenile Polyposis by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.*1169_*1173del rs138404813 0.00832
NM_005359.6(SMAD4):c.*4867dup rs571773833 0.00286
NM_005359.6(SMAD4):c.*2968del rs574286440 0.00280
NM_005359.5(SMAD4):c.*6588C>G rs186324049 0.00003
NM_004329.3(BMPR1A):c.*45_*47del rs530912809
NM_005359.5(SMAD4):c.*6586C>T rs534182161
NM_005359.6(SMAD4):c.*3878dup rs373831598
NM_005359.6(SMAD4):c.*4585GA[1] rs374333786
NM_005359.6(SMAD4):c.*6353del rs573785159

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