ClinVar Miner

List of variants in gene SMAD4 studied for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_005359.5(SMAD4):c.*4587_*4590delGAGA rs374333786
NM_005359.5(SMAD4):c.*5543_*5546dupGCGC rs68159021
NM_005359.5(SMAD4):c.*5545_*5546delGC rs68159021
NM_005359.5(SMAD4):c.*5564_*5577dupCACACACACACACA rs56017493
NM_005359.5(SMAD4):c.*5570_*5577dupCACACACA rs56017493
NM_005359.5(SMAD4):c.*5572_*5577delCACACA rs56017493
NM_005359.5(SMAD4):c.*5574_*5577delCACA rs56017493
NM_005359.5(SMAD4):c.*5576_*5577delCA rs56017493
NM_005359.5(SMAD4):c.*5576_*5577dupCA rs56017493
NM_005359.5(SMAD4):c.*5637_*5640delACAC rs368759758
NM_005359.5(SMAD4):c.*6162_*6165delGATT rs886053936
NM_005359.5(SMAD4):c.*6586C>T rs534182161
NM_005359.5(SMAD4):c.*6588C>G rs186324049
NM_005359.5(SMAD4):c.-503_-501delACA rs886053885
NM_005359.6(SMAD4):c.*1169_*1173del rs138404813
NM_005359.6(SMAD4):c.*1512dup rs755827115
NM_005359.6(SMAD4):c.*1564_*1567del rs886053903
NM_005359.6(SMAD4):c.*2630A>G rs768569083
NM_005359.6(SMAD4):c.*2707_*2711del rs769541605
NM_005359.6(SMAD4):c.*2968del rs574286440
NM_005359.6(SMAD4):c.*3843G>A rs886053915
NM_005359.6(SMAD4):c.*3878dup rs373831598
NM_005359.6(SMAD4):c.*4867dup rs571773833
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.*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.*5576C>G rs886053930
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.*6353del rs573785159

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