ClinVar Miner

List of variants studied for Juvenile Polyposis

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Total variants: 45
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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_001114753.3(ENG):c.-246T>C rs886063478 0.00020
NM_005359.6(SMAD4):c.*5576C>G rs886053930 0.00010
NM_005359.5(SMAD4):c.*6588C>G rs186324049 0.00003
NM_005359.6(SMAD4):c.*2630A>G rs768569083 0.00003
NM_001114753.3(ENG):c.1806C>T (p.Ile602=) rs373002544 0.00002
NM_001114753.3(ENG):c.361-12_361-11del rs781079790 0.00002
NM_005359.6(SMAD4):c.*3843G>A rs886053915 0.00001
NM_001114753.3(ENG):c.-70del rs886063477
NM_001114753.3(ENG):c.1429-9_1429-6dup rs762494923
NM_004329.3(BMPR1A):c.*45_*47del rs530912809
NM_004329.3(BMPR1A):c.1328G>A (p.Arg443His) rs876659155
NM_005359.5(SMAD4):c.*6586C>T rs534182161
NM_005359.6(SMAD4):c.*1512dup rs755827115
NM_005359.6(SMAD4):c.*1564_*1567del rs886053903
NM_005359.6(SMAD4):c.*2707_*2711del rs769541605
NM_005359.6(SMAD4):c.*3878dup rs373831598
NM_005359.6(SMAD4):c.*4585GA[1] rs374333786
NM_005359.6(SMAD4):c.*4991dup rs886053919
NM_005359.6(SMAD4):c.*5004_*5005dup rs113155703
NM_005359.6(SMAD4):c.*5535_*5540del rs147193925
NM_005359.6(SMAD4):c.*5535_*5545delinsGCGCACA rs886053923
NM_005359.6(SMAD4):c.*5535_*5547delinsGCG rs886053924
NM_005359.6(SMAD4):c.*5535_*5549delinsG rs886053925
NM_005359.6(SMAD4):c.*5537GC[4] rs68159021
NM_005359.6(SMAD4):c.*5537GC[7] rs68159021
NM_005359.6(SMAD4):c.*5546CA[13] rs56017493
NM_005359.6(SMAD4):c.*5546CA[14] rs56017493
NM_005359.6(SMAD4):c.*5546CA[15] rs56017493
NM_005359.6(SMAD4):c.*5546CA[17] rs56017493
NM_005359.6(SMAD4):c.*5546CA[20] rs56017493
NM_005359.6(SMAD4):c.*5546CA[23] rs56017493
NM_005359.6(SMAD4):c.*5546_*5547insGCAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACACAC rs1555688055
NM_005359.6(SMAD4):c.*5631AC[3] rs368759758
NM_005359.6(SMAD4):c.*5691_*5693del rs374306389
NM_005359.6(SMAD4):c.*5757dup rs886053931
NM_005359.6(SMAD4):c.*5863_*5867del rs78989198
NM_005359.6(SMAD4):c.*6158GATT[1] rs886053936
NM_005359.6(SMAD4):c.*6353del rs573785159
NM_005359.6(SMAD4):c.-506ACA[1] rs886053885

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