ClinVar Miner

List of variants in gene SMAD4 reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs) rs377767335
NM_005359.6(SMAD4):c.1019dup (p.Val341fs)
NM_005359.6(SMAD4):c.1023del (p.Pro342fs) rs1555686469
NM_005359.6(SMAD4):c.1028C>G (p.Ser343Ter) rs1599195400
NM_005359.6(SMAD4):c.1045dup (p.Thr349fs) rs1599195433
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val) rs1060500741
NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter) rs863224400
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter) rs1060500733
NM_005359.6(SMAD4):c.1134_1135del (p.Arg378fs) rs1555686503
NM_005359.6(SMAD4):c.1138del (p.Arg380fs) rs1555686506
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys) rs377767353
NM_005359.6(SMAD4):c.1140-1G>A rs1555686594
NM_005359.6(SMAD4):c.1158_1159insTG (p.Val387fs)
NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter) rs1599196995
NM_005359.6(SMAD4):c.1198del (p.Arg400fs) rs1060500734
NM_005359.6(SMAD4):c.1201dup (p.Cys401fs) rs1555686604
NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter) rs878854765
NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs) rs1555686608
NM_005359.6(SMAD4):c.1239C>G (p.Tyr413Ter) rs730881954
NM_005359.6(SMAD4):c.1239_1241del (p.Tyr413_Leu414delinsTer) rs1555686610
NM_005359.6(SMAD4):c.1239_1242del (p.Tyr412_Tyr413insTer)
NM_005359.6(SMAD4):c.1242dup (p.Asp415fs) rs786201200
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1289dup (p.Tyr430Ter)
NM_005359.6(SMAD4):c.1308+1G>A rs587781618
NM_005359.6(SMAD4):c.1309-1G>A rs1555687377
NM_005359.6(SMAD4):c.1311del (p.Phe438fs) rs1599204042
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter) rs587781359
NM_005359.6(SMAD4):c.1349_1376del (p.Gln450fs) rs876660720
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) rs587780124
NM_005359.6(SMAD4):c.1361_1364del (p.Ala454fs) rs377767363
NM_005359.6(SMAD4):c.1381C>T (p.Gln461Ter) rs1599204140
NM_005359.6(SMAD4):c.1410_1413dup (p.Pro472fs)
NM_005359.6(SMAD4):c.1418del (p.Gly473fs) rs1555687388
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1507_1508insATCC (p.Met503fs)
NM_005359.6(SMAD4):c.153del (p.Asp52fs) rs786203560
NM_005359.6(SMAD4):c.153dup (p.Asp52fs) rs786203560
NM_005359.6(SMAD4):c.1547dup (p.Ser517fs) rs587783060
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs) rs377767373
NM_005359.6(SMAD4):c.1585_1586dup (p.Leu529fs) rs876660150
NM_005359.6(SMAD4):c.223C>T (p.Gln75Ter)
NM_005359.6(SMAD4):c.250-1G>A rs1555685149
NM_005359.6(SMAD4):c.263_287dup (p.Leu98fs)
NM_005359.6(SMAD4):c.275_276del (p.His92fs) rs1555685156
NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter) rs876660079
NM_005359.6(SMAD4):c.303G>A (p.Trp101Ter) rs1909619442
NM_005359.6(SMAD4):c.320del (p.Asn107fs)
NM_005359.6(SMAD4):c.337_343del (p.Lys113fs)
NM_005359.6(SMAD4):c.372_373dup (p.Ser125fs)
NM_005359.6(SMAD4):c.399C>G (p.Tyr133Ter) rs779069779
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter) rs377767326
NM_005359.6(SMAD4):c.413C>G (p.Ser138Ter) rs1599182571
NM_005359.6(SMAD4):c.415_416del (p.Pro139fs) rs1599182586
NM_005359.6(SMAD4):c.424+1G>A rs377767386
NM_005359.6(SMAD4):c.430_431del (p.Ser144fs) rs377767328
NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter) rs1555685624
NM_005359.6(SMAD4):c.479dup (p.Asp160fs)
NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter) rs1449334786
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter) rs377767331
NM_005359.6(SMAD4):c.547C>T (p.Gln183Ter) rs1555685645
NM_005359.6(SMAD4):c.584dup (p.Tyr195Ter)
NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter) rs1316902116
NM_005359.6(SMAD4):c.633dup (p.Ala212fs)
NM_005359.6(SMAD4):c.692del (p.Gly231fs)
NM_005359.6(SMAD4):c.692dup (p.Ser232fs) rs377767334
NM_005359.6(SMAD4):c.725C>G (p.Ser242Ter)
NM_005359.6(SMAD4):c.752del (p.Asn251fs) rs1555685925
NM_005359.6(SMAD4):c.794dup (p.Thr266fs)
NM_005359.6(SMAD4):c.860_861insGATA (p.His287fs)
NM_005359.6(SMAD4):c.886_895del (p.Pro296fs) rs869312781
NM_005359.6(SMAD4):c.898_904+1dup rs1555685974
NM_005359.6(SMAD4):c.903del (p.Trp302fs) rs1555685978
NM_005359.6(SMAD4):c.905G>A (p.Trp302Ter) rs1555686071
NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter) rs878854769
NM_005359.6(SMAD4):c.915del (p.His305fs)
NM_005359.6(SMAD4):c.917del (p.Asn306fs)
NM_005359.6(SMAD4):c.931C>T (p.Gln311Ter) rs876658694
NM_005359.6(SMAD4):c.939dup (p.Ile314fs) rs1568206602
NM_005359.6(SMAD4):c.969G>A (p.Trp323Ter)

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