ClinVar Miner

List of variants in gene SMAD4 reported as benign for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.*5131A>G rs12456284 0.19420
NM_005359.6(SMAD4):c.*5535A>G rs75712226 0.07867
NM_005359.6(SMAD4):c.*6423G>C rs2282544 0.04514
NM_005359.6(SMAD4):c.*685A>C rs16952798 0.03369
NM_005359.6(SMAD4):c.*1179T>C rs10470 0.02819
NM_005359.6(SMAD4):c.*5170C>T rs117142232 0.01554
NM_005359.6(SMAD4):c.*5083G>A rs145596898 0.01488
NM_005359.6(SMAD4):c.*2122A>G rs149424787 0.01125
NM_005359.6(SMAD4):c.*6513C>T rs76020793 0.00838
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_005359.6(SMAD4):c.*3398A>G rs182735651 0.00515
NM_005359.6(SMAD4):c.*3662C>T rs114852346 0.00503
NM_005359.6(SMAD4):c.*1820T>G rs141309481 0.00426
NM_005359.6(SMAD4):c.*5259A>T rs139414609 0.00320
NM_005359.6(SMAD4):c.*2796G>T rs4939651 0.00278
NM_005359.6(SMAD4):c.*5419T>C rs146551171 0.00277
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_005359.6(SMAD4):c.*2989A>G rs139526377 0.00208
NM_005359.6(SMAD4):c.*4748C>T rs375580807 0.00175
NM_005359.6(SMAD4):c.*2488T>A rs148190627 0.00169
NM_005359.6(SMAD4):c.*2914C>T rs147352474 0.00075
NM_005359.6(SMAD4):c.*6009G>C rs181250637 0.00070
NM_005359.6(SMAD4):c.*2361A>G rs143842829 0.00061
NM_005359.6(SMAD4):c.*5627G>A rs185010226 0.00055
NM_005359.6(SMAD4):c.*4378T>G rs540039847 0.00050
NM_005359.6(SMAD4):c.*6492A>T rs569819237 0.00049
NM_005359.6(SMAD4):c.*4862A>G rs139595540 0.00045
NM_005359.6(SMAD4):c.*412A>G rs28403611 0.00036
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_005359.6(SMAD4):c.*1659C>A rs574896468 0.00026
NM_005359.6(SMAD4):c.*5801T>C rs577928234 0.00021
NM_005359.6(SMAD4):c.*2353C>T rs550660083 0.00011
NM_005359.6(SMAD4):c.*12G>A rs148687037 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005359.6(SMAD4):c.-401C>T rs555375675 0.00004
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005359.6(SMAD4):c.*5080A>G rs532965680 0.00002
NM_005359.6(SMAD4):c.*30A>C rs767288576 0.00001
NM_005359.6(SMAD4):c.*334C>T rs534790830 0.00001
NM_005359.6(SMAD4):c.*4643T>C rs369040052 0.00001
NM_005359.6(SMAD4):c.*1864C>A rs561442548
NM_005359.6(SMAD4):c.*1866A>G rs4940037
NM_005359.6(SMAD4):c.*5631AC[3] rs368759758
NM_005359.6(SMAD4):c.*5691_*5693del rs374306389
NM_005359.6(SMAD4):c.*5863_*5867del rs78989198
NM_005359.6(SMAD4):c.*5994A>C rs3819122

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.