ClinVar Miner

List of variants in gene SMAD4 reported as uncertain significance by GeneDx

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Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.787+1_788-1del rs1599189646 0.00095
NM_005359.6(SMAD4):c.904+14T>C rs200973136 0.00017
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) rs138800446 0.00014
NM_005359.6(SMAD4):c.466A>T (p.Met156Leu) rs534355764 0.00011
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005359.6(SMAD4):c.-128+6C>T rs1023427434 0.00007
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288 0.00005
NM_005359.6(SMAD4):c.-128+19C>T rs974217374 0.00004
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005359.6(SMAD4):c.332A>C (p.His111Pro) rs1064794363 0.00003
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694 0.00002
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile) rs780716382 0.00002
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile) rs587780792 0.00002
NM_005359.6(SMAD4):c.884C>T (p.Pro295Leu) rs370176106 0.00002
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val) rs747360831 0.00001
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile) rs564408927 0.00001
NM_005359.6(SMAD4):c.1124C>T (p.Ala375Val) rs1555686499 0.00001
NM_005359.6(SMAD4):c.1213C>T (p.His405Tyr) rs1179609154 0.00001
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) rs147621330 0.00001
NM_005359.6(SMAD4):c.1263A>G (p.Ala421=) rs1406947861 0.00001
NM_005359.6(SMAD4):c.1588C>A (p.His530Asn) rs754393017 0.00001
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val) rs1064794204 0.00001
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) rs281875323 0.00001
NM_005359.6(SMAD4):c.470T>C (p.Met157Thr) rs756675590 0.00001
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) rs542392980 0.00001
NM_005359.6(SMAD4):c.566G>A (p.Arg189His) rs759288477 0.00001
NM_005359.6(SMAD4):c.572C>T (p.Ser191Leu) rs752575871 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_005359.6(SMAD4):c.682A>G (p.Ile228Val) rs1280682459 0.00001
NM_005359.6(SMAD4):c.70A>G (p.Met24Val) rs876659391 0.00001
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr) rs876659967 0.00001
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu) rs751985298 0.00001
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu) rs786201404 0.00001
NM_005359.6(SMAD4):c.905-8T>C rs1249416688 0.00001
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) rs730881953 0.00001
NM_005359.6(SMAD4):c.940A>G (p.Ile314Val) rs748622028 0.00001
NM_005359.6(SMAD4):c.960T>C (p.Pro320=) rs1568208159 0.00001
NM_005359.6(SMAD4):c.1002G>T (p.Gln334His) rs773598775
NM_005359.6(SMAD4):c.1012A>G (p.Thr338Ala)
NM_005359.6(SMAD4):c.1069T>C (p.Ser357Pro)
NM_005359.6(SMAD4):c.1105A>G (p.Asn369Asp) rs1910125270
NM_005359.6(SMAD4):c.1126A>G (p.Ile376Val) rs1555686501
NM_005359.6(SMAD4):c.1148T>C (p.Ile383Thr) rs377767355
NM_005359.6(SMAD4):c.1200G>T (p.Arg400Ser) rs876658516
NM_005359.6(SMAD4):c.1217C>T (p.Ala406Val) rs1064796102
NM_005359.6(SMAD4):c.1259G>A (p.Arg420His) rs1064793725
NM_005359.6(SMAD4):c.1273G>A (p.Ala425Thr) rs2144452734
NM_005359.6(SMAD4):c.1301A>G (p.Tyr434Cys) rs780610518
NM_005359.6(SMAD4):c.1308+4A>T rs1555686626
NM_005359.6(SMAD4):c.1322G>A (p.Arg441His) rs1599204057
NM_005359.6(SMAD4):c.1414C>G (p.Pro472Ala) rs1169893474
NM_005359.6(SMAD4):c.1507A>G (p.Met503Val) rs1426800709
NM_005359.6(SMAD4):c.1544G>A (p.Arg515Lys)
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.6(SMAD4):c.1590C>G (p.His530Gln) rs935557677
NM_005359.6(SMAD4):c.1634T>A (p.Ile545Asn) rs730881955
NM_005359.6(SMAD4):c.1635T>G (p.Ile545Met) rs200595795
NM_005359.6(SMAD4):c.1639G>A (p.Asp547Asn) rs2144479750
NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val) rs1064793950
NM_005359.6(SMAD4):c.16A>G (p.Ile6Val) rs1376500870
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.6(SMAD4):c.17T>C (p.Ile6Thr) rs1599181007
NM_005359.6(SMAD4):c.1A>G (p.Met1Val) rs1064795777
NM_005359.6(SMAD4):c.29C>T (p.Pro10Leu) rs1909566256
NM_005359.6(SMAD4):c.353C>T (p.Ala118Val) rs2144405775
NM_005359.6(SMAD4):c.370G>C (p.Asp124His)
NM_005359.6(SMAD4):c.425-6A>G rs377767327
NM_005359.6(SMAD4):c.533C>T (p.Ser178Leu) rs377767331
NM_005359.6(SMAD4):c.554C>A (p.Pro185Gln) rs770798845
NM_005359.6(SMAD4):c.564T>G (p.Asn188Lys) rs1909798588
NM_005359.6(SMAD4):c.593C>G (p.Pro198Arg) rs1189715258
NM_005359.6(SMAD4):c.605C>T (p.Ala202Val) rs2144419222
NM_005359.6(SMAD4):c.607C>G (p.Pro203Ala) rs199809905
NM_005359.6(SMAD4):c.619A>G (p.Asn207Asp) rs1909801132
NM_005359.6(SMAD4):c.643C>T (p.Pro215Ser) rs1064793270
NM_005359.6(SMAD4):c.645C>T (p.Pro215=) rs1599187076
NM_005359.6(SMAD4):c.652C>G (p.Pro218Ala) rs1345146274
NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala) rs770461626
NM_005359.6(SMAD4):c.667+5_667+6insCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTGTTGCAGATAGCATCAGGGCC rs2144419801
NM_005359.6(SMAD4):c.680G>T (p.Ser227Ile) rs1909890755
NM_005359.6(SMAD4):c.692G>A (p.Gly231Asp) rs759679579
NM_005359.6(SMAD4):c.692G>C (p.Gly231Ala) rs759679579
NM_005359.6(SMAD4):c.715_717dup (p.Gln239_Ile240insGln)
NM_005359.6(SMAD4):c.722C>T (p.Ala241Val) rs1909892795
NM_005359.6(SMAD4):c.741A>G (p.Gly247=) rs1555685919
NM_005359.6(SMAD4):c.749A>G (p.Gln250Arg) rs879254159
NM_005359.6(SMAD4):c.756A>G (p.Gly252=) rs1244121412
NM_005359.6(SMAD4):c.763G>T (p.Gly255Cys) rs1555685930
NM_005359.6(SMAD4):c.781C>T (p.His261Tyr)
NM_005359.6(SMAD4):c.790A>G (p.Ser264Gly) rs587780125
NM_005359.6(SMAD4):c.799A>C (p.Thr267Pro) rs1064793728
NM_005359.6(SMAD4):c.808G>A (p.Gly270Arg)
NM_005359.6(SMAD4):c.815G>A (p.Arg272Lys) rs2144428590
NM_005359.6(SMAD4):c.821C>T (p.Ala274Val) rs2144428659
NM_005359.6(SMAD4):c.842C>T (p.Pro281Leu) rs1568206174
NM_005359.6(SMAD4):c.845A>C (p.His282Pro) rs1555685962
NM_005359.6(SMAD4):c.871C>T (p.His291Tyr) rs863224733
NM_005359.6(SMAD4):c.878C>G (p.Pro293Arg) rs2144429246
NM_005359.6(SMAD4):c.899A>G (p.His300Arg) rs1060500731
NM_005359.6(SMAD4):c.8A>G (p.Asn3Ser) rs757702252
NM_005359.6(SMAD4):c.905-9T>C rs1064795175
NM_005359.6(SMAD4):c.910G>A (p.Val304Ile) rs375185293
NM_005359.6(SMAD4):c.914A>C (p.His305Pro) rs1555686072
NM_005359.6(SMAD4):c.934C>A (p.Pro312Thr)
NM_005359.6(SMAD4):c.954T>C (p.Pro318=) rs773615487
NM_005359.6(SMAD4):c.970T>C (p.Cys324Arg) rs377767339
NM_005359.6(SMAD4):c.976A>G (p.Ile326Val) rs1402203611
NM_005359.6(SMAD4):c.97G>A (p.Glu33Lys) rs2144400892

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