ClinVar Miner

List of variants in gene SMAD4 reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

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Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.466A>T (p.Met156Leu) rs534355764 0.00011
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.956-3T>C rs748283001 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.*14T>G rs989027869 0.00001
NM_005359.6(SMAD4):c.-3C>G rs886053892 0.00001
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.1393G>A (p.Val465Met) rs786201798 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005359.6(SMAD4):c.1532C>T (p.Pro511Leu) rs773367516 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.400G>A (p.Glu134Lys) rs748395067 0.00001
NM_005359.6(SMAD4):c.424+6T>C rs771456293 0.00001
NM_005359.6(SMAD4):c.454+7A>C rs755891338 0.00001
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) rs542392980 0.00001
NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu) rs770798845 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.638A>G (p.Asn213Ser) rs757977781 0.00001
NM_005359.6(SMAD4):c.644C>G (p.Pro215Arg) rs777495692 0.00001
NM_005359.6(SMAD4):c.652C>A (p.Pro218Thr) rs1345146274 0.00001
NM_005359.6(SMAD4):c.667+6T>C rs1060500745 0.00001
NM_005359.6(SMAD4):c.668-15T>G rs1378869804 0.00001
NM_005359.6(SMAD4):c.668G>A (p.Ser223Asn) rs774334251 0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793 0.00001
NM_005359.6(SMAD4):c.679A>G (p.Ser227Gly) rs1443767329 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.917A>G (p.Asn306Ser) rs730881953 0.00001
NM_005359.6(SMAD4):c.940A>G (p.Ile314Val) rs748622028 0.00001
NM_005359.6(SMAD4):c.956-7C>A rs778959035 0.00001
NM_005359.5(SMAD4):c.675_676delTGinsCC (p.Ala226Pro) rs1568206030
NM_005359.6(SMAD4):c.*14T>C rs989027869
NM_005359.6(SMAD4):c.*19C>T rs1910529445
NM_005359.6(SMAD4):c.*1G>A rs1555687622
NM_005359.6(SMAD4):c.*6T>C rs1910528670
NM_005359.6(SMAD4):c.-10A>T
NM_005359.6(SMAD4):c.-10del rs1909564444
NM_005359.6(SMAD4):c.-1A>C
NM_005359.6(SMAD4):c.-3C>T
NM_005359.6(SMAD4):c.1047T>A (p.Thr349=)
NM_005359.6(SMAD4):c.1061T>A (p.Val354Glu) rs1910123460
NM_005359.6(SMAD4):c.1126A>G (p.Ile376Val) rs1555686501
NM_005359.6(SMAD4):c.1139+1_1139+4dup
NM_005359.6(SMAD4):c.1140-5C>G rs1599196891
NM_005359.6(SMAD4):c.1148T>C (p.Ile383Thr) rs377767355
NM_005359.6(SMAD4):c.1166T>C (p.Leu389Ser)
NM_005359.6(SMAD4):c.1198A>G (p.Arg400Gly) rs1910180511
NM_005359.6(SMAD4):c.1258C>T (p.Arg420Cys) rs1367209662
NM_005359.6(SMAD4):c.1280A>G (p.His427Arg) rs1555686619
NM_005359.6(SMAD4):c.1308+4A>T rs1555686626
NM_005359.6(SMAD4):c.1309-5A>G rs1568211170
NM_005359.6(SMAD4):c.1309-8C>T rs1910476849
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile) rs1568211172
NM_005359.6(SMAD4):c.1326G>C (p.Gln442His) rs1568211178
NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu) rs1568211184
NM_005359.6(SMAD4):c.1375G>A (p.Ala459Thr) rs1910479958
NM_005359.6(SMAD4):c.1403A>G (p.Asn468Ser) rs569981255
NM_005359.6(SMAD4):c.1415C>T (p.Pro472Leu) rs2144474506
NM_005359.6(SMAD4):c.1427G>A (p.Gly476Asp) rs1910482834
NM_005359.6(SMAD4):c.1438C>T (p.Pro480Ser) rs1555687390
NM_005359.6(SMAD4):c.1447A>G (p.Ser483Gly) rs1910483270
NM_005359.6(SMAD4):c.1448-5G>T rs587781640
NM_005359.6(SMAD4):c.1448-9T>A rs770799201
NM_005359.6(SMAD4):c.1463C>T (p.Ala488Val)
NM_005359.6(SMAD4):c.1487G>A (p.Arg496His) rs876660045
NM_005359.6(SMAD4):c.1525T>G (p.Trp509Gly) rs377767369
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.6(SMAD4):c.1594G>T (p.Ala532Ser) rs1910525103
NM_005359.6(SMAD4):c.1627A>G (p.Met543Val) rs1910526541
NM_005359.6(SMAD4):c.1627A>T (p.Met543Leu) rs1910526541
NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile) rs1910526660
NM_005359.6(SMAD4):c.1635T>G (p.Ile545Met) rs200595795
NM_005359.6(SMAD4):c.1646A>C (p.Gln549Pro)
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.175A>G (p.Thr59Ala) rs587781977
NM_005359.6(SMAD4):c.179C>T (p.Ala60Val) rs1555685030
NM_005359.6(SMAD4):c.17T>C (p.Ile6Thr) rs1599181007
NM_005359.6(SMAD4):c.197C>T (p.Ala66Val) rs2144401606
NM_005359.6(SMAD4):c.209A>C (p.Lys70Thr) rs1555685038
NM_005359.6(SMAD4):c.249_249+6dup rs1555685040
NM_005359.6(SMAD4):c.250-11T>C rs1909617473
NM_005359.6(SMAD4):c.250-4C>G rs1599182375
NM_005359.6(SMAD4):c.26C>T (p.Thr9Ile) rs1555684986
NM_005359.6(SMAD4):c.282C>G (p.Ile94Met) rs1599182415
NM_005359.6(SMAD4):c.284A>G (p.Tyr95Cys) rs1460631652
NM_005359.6(SMAD4):c.304C>G (p.Pro102Ala) rs1568203445
NM_005359.6(SMAD4):c.333T>A (p.His111Gln) rs1568203454
NM_005359.6(SMAD4):c.3G>C (p.Met1Ile) rs973470216
NM_005359.6(SMAD4):c.442C>G (p.Leu148Val) rs1568203602
NM_005359.6(SMAD4):c.463A>G (p.Ser155Gly) rs1057519259
NM_005359.6(SMAD4):c.469A>G (p.Met157Val) rs1443471590
NM_005359.6(SMAD4):c.469A>T (p.Met157Leu) rs1443471590
NM_005359.6(SMAD4):c.520A>T (p.Thr174Ser) rs1333974956
NM_005359.6(SMAD4):c.530A>C (p.His177Pro) rs1568205026
NM_005359.6(SMAD4):c.554C>A (p.Pro185Gln) rs770798845
NM_005359.6(SMAD4):c.55A>G (p.Ile19Val) rs1568202964
NM_005359.6(SMAD4):c.560G>A (p.Ser187Asn) rs927620013
NM_005359.6(SMAD4):c.566G>T (p.Arg189Leu) rs759288477
NM_005359.6(SMAD4):c.568G>C (p.Ala190Pro) rs61751988
NM_005359.6(SMAD4):c.568G>T (p.Ala190Ser) rs61751988
NM_005359.6(SMAD4):c.569C>T (p.Ala190Val) rs1909799016
NM_005359.6(SMAD4):c.577G>C (p.Glu193Gln)
NM_005359.6(SMAD4):c.580A>T (p.Thr194Ser) rs1432058632
NM_005359.6(SMAD4):c.584A>C (p.Tyr195Ser) rs1555685656
NM_005359.6(SMAD4):c.586A>G (p.Ser196Gly) rs946539148
NM_005359.6(SMAD4):c.58G>T (p.Val20Leu) rs1568202971
NM_005359.6(SMAD4):c.607C>G (p.Pro203Ala) rs199809905
NM_005359.6(SMAD4):c.614A>C (p.Glu205Ala) rs748615724
NM_005359.6(SMAD4):c.616T>G (p.Ser206Ala) rs1909800988
NM_005359.6(SMAD4):c.643C>T (p.Pro215Ser) rs1064793270
NM_005359.6(SMAD4):c.651T>G (p.Ile217Met) rs997151197
NM_005359.6(SMAD4):c.652C>T (p.Pro218Ser) rs1345146274
NM_005359.6(SMAD4):c.667A>G (p.Ser223Gly) rs1568205121
NM_005359.6(SMAD4):c.668-13_668-11del
NM_005359.6(SMAD4):c.668-17_668-16insTAA rs1909889509
NM_005359.6(SMAD4):c.697C>A (p.His233Asn) rs552880257
NM_005359.6(SMAD4):c.700A>C (p.Ser234Arg) rs758642067
NM_005359.6(SMAD4):c.700A>G (p.Ser234Gly) rs758642067
NM_005359.6(SMAD4):c.702T>G (p.Ser234Arg) rs1555685911
NM_005359.6(SMAD4):c.715C>G (p.Gln239Glu) rs1163381283
NM_005359.6(SMAD4):c.716A>T (p.Gln239Leu) rs1555685916
NM_005359.6(SMAD4):c.718A>G (p.Ile240Val) rs1909892677
NM_005359.6(SMAD4):c.721G>A (p.Ala241Thr) rs1599189522
NM_005359.6(SMAD4):c.72G>A (p.Met24Ile)
NM_005359.6(SMAD4):c.740G>A (p.Gly247Glu) rs1909893398
NM_005359.6(SMAD4):c.740G>T (p.Gly247Val)
NM_005359.6(SMAD4):c.746A>G (p.Gln249Arg) rs371536364
NM_005359.6(SMAD4):c.752A>G (p.Asn251Ser) rs1555685926
NM_005359.6(SMAD4):c.755G>T (p.Gly252Val) rs878854768
NM_005359.6(SMAD4):c.763G>T (p.Gly255Cys) rs1555685930
NM_005359.6(SMAD4):c.779A>C (p.Tyr260Ser) rs1555685937
NM_005359.6(SMAD4):c.787+1G>A rs1568206107
NM_005359.6(SMAD4):c.788-14G>A rs769943457
NM_005359.6(SMAD4):c.788-7T>C rs1599189718
NM_005359.6(SMAD4):c.789C>G (p.Asn263Lys) rs763510526
NM_005359.6(SMAD4):c.796A>G (p.Thr266Ala) rs1909898933
NM_005359.6(SMAD4):c.797C>T (p.Thr266Ile) rs1909899027
NM_005359.6(SMAD4):c.800C>T (p.Thr267Ile) rs1555685955
NM_005359.6(SMAD4):c.802T>C (p.Trp268Arg) rs1909899403
NM_005359.6(SMAD4):c.820G>A (p.Ala274Thr) rs751860447
NM_005359.6(SMAD4):c.838T>G (p.Leu280Val) rs1909901968
NM_005359.6(SMAD4):c.845A>C (p.His282Pro) rs1555685962
NM_005359.6(SMAD4):c.860A>G (p.His287Arg) rs1568206180
NM_005359.6(SMAD4):c.874C>G (p.Pro292Ala) rs1909904049
NM_005359.6(SMAD4):c.877C>T (p.Pro293Ser) rs1555685965
NM_005359.6(SMAD4):c.887C>A (p.Pro296His) rs1417632301
NM_005359.6(SMAD4):c.887C>G (p.Pro296Arg)
NM_005359.6(SMAD4):c.905-8T>G rs1249416688
NM_005359.6(SMAD4):c.907C>A (p.Pro303Thr)
NM_005359.6(SMAD4):c.907C>G (p.Pro303Ala) rs1568206575
NM_005359.6(SMAD4):c.910G>A (p.Val304Ile) rs375185293
NM_005359.6(SMAD4):c.919G>A (p.Glu307Lys) rs1555686079
NM_005359.6(SMAD4):c.91G>A (p.Glu31Lys) rs1909568048
NM_005359.6(SMAD4):c.922C>G (p.Leu308Val) rs1383128743
NM_005359.6(SMAD4):c.930C>G (p.Phe310Leu) rs876658257
NM_005359.6(SMAD4):c.955+5G>A rs1909960931
NM_005359.6(SMAD4):c.991A>G (p.Met331Val) rs1599195350

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