ClinVar Miner

List of variants in gene SMAD4 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.1140-256G>A rs2509999 0.98692
NM_005359.6(SMAD4):c.1447+257T>C rs2298617 0.39454
NM_005359.6(SMAD4):c.-127-650C>T rs12455792 0.38992
NM_005359.6(SMAD4):c.667+238C>A rs8096092 0.38922
NM_005359.6(SMAD4):c.424+159T>C rs2276163 0.38899
NM_005359.6(SMAD4):c.-127-306G>A rs67325153 0.31822
NM_005359.6(SMAD4):c.955+58C>T rs948588 0.05406
NM_005359.6(SMAD4):c.905-52A>G rs948589 0.05280
NM_005359.6(SMAD4):c.956-31G>A rs11875522 0.04946
NM_005359.6(SMAD4):c.249+215A>G rs16952779 0.03219
NM_005359.6(SMAD4):c.249+300del rs139940554 0.02271
NM_005359.6(SMAD4):c.-127-46C>T rs77337149 0.01750
NM_005359.6(SMAD4):c.455-43A>T rs149541014 0.00759
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
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.-148C>T rs896378489 0.00036
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983 0.00005
NM_005359.6(SMAD4):c.-127-14T>C rs559274401 0.00004
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078 0.00004
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=) rs756795016 0.00004
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_005359.6(SMAD4):c.84A>G (p.Gln28=) rs778465458 0.00003
NM_005359.6(SMAD4):c.-128+89CGG[8] rs533316618
NM_005359.6(SMAD4):c.1139+446del rs34861220
NM_005359.6(SMAD4):c.1139+44T>C rs28539779
NM_005359.6(SMAD4):c.1308+96_1308+102del rs148310488
NM_005359.6(SMAD4):c.454+242del rs11287965
NM_005359.6(SMAD4):c.904+44_904+45dup rs386387676
NM_005359.6(SMAD4):c.904+45del rs386387676
NM_005359.6(SMAD4):c.904+45dup rs386387676

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