ClinVar Miner

List of variants in gene SMAD4 reported by University of Washington Department of Laboratory Medicine, University of Washington

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.-128+759G>A rs9961921 0.00961
NM_005359.6(SMAD4):c.1308+2398T>G rs79208698 0.00836
NM_005359.6(SMAD4):c.-128+3139C>T rs75913646 0.00835
NM_005359.6(SMAD4):c.-127-4838G>A rs145288509 0.00606
NM_005359.6(SMAD4):c.-128+263G>C rs149534722 0.00506
NM_005359.6(SMAD4):c.-127-4835G>A rs146792006 0.00314
NM_005359.6(SMAD4):c.1448-113T>C rs145011178 0.00312
NM_005359.6(SMAD4):c.1308+623C>T rs146176832 0.00277
NM_005359.6(SMAD4):c.667+54T>C rs371193569 0.00261
NM_005359.6(SMAD4):c.668-1111A>G rs140846022 0.00189
NM_005359.6(SMAD4):c.454+291T>A rs182939830 0.00180
NM_005359.6(SMAD4):c.-127-3318A>G rs191217645 0.00155
NM_005359.6(SMAD4):c.-128+540A>G rs142196376 0.00137
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_005359.6(SMAD4):c.1308+4116C>T rs869312653 0.00007
NM_005359.6(SMAD4):c.-127-135A>C rs181270148 0.00004
NM_005359.6(SMAD4):c.904+298T>C rs869312649 0.00004
NM_005359.6(SMAD4):c.-128+1995A>G rs869312651 0.00001
NM_005359.6(SMAD4):c.250-589A>G rs869312650 0.00001
NM_005359.6(SMAD4):c.424+165A>G rs182981059 0.00001
NM_005359.5(SMAD4):c.(?_-538)_1139+?del
NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp) rs1555687572
NM_005359.6(SMAD4):c.455-1921T>G rs869312652
NM_005359.6(SMAD4):c.667+299T>C rs869312648
NM_005359.6(SMAD4):c.787+15T>C rs374687785
NM_005359.6(SMAD4):c.886_895del (p.Pro296fs) rs869312781

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.