ClinVar Miner

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

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Total variants: 31
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HGVS dbSNP
NM_005359.5(SMAD4):c.1023delT (p.Pro342Leufs) rs1555686469
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1096C>T (p.Gln366Ter) rs1060500733
NM_005359.5(SMAD4):c.1198delA (p.Arg400Glyfs) rs1060500734
NM_005359.5(SMAD4):c.1201dup (p.Cys401Leufs) rs1555686604
NM_005359.5(SMAD4):c.1228_1229delCA (p.Gln410Glufs) rs1555686608
NM_005359.5(SMAD4):c.1239_1241delCTT (p.Tyr413_Asp552del) rs1555686610
NM_005359.5(SMAD4):c.1242dupA (p.Asp415Argfs) rs786201200
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005359.5(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.5(SMAD4):c.1345C>T (p.Gln449Ter) rs587781359
NM_005359.5(SMAD4):c.1349_1376del28 (p.Gln450Leufs) rs876660720
NM_005359.5(SMAD4):c.1349_1376dup (p.Ala460Glyfs) rs876660720
NM_005359.5(SMAD4):c.1351_1375del25 (p.Ala451Leufs) rs587780124
NM_005359.5(SMAD4):c.1418delG (p.Gly473Aspfs) rs1555687388
NM_005359.5(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005359.5(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.5(SMAD4):c.153delA (p.Asp52Metfs) rs786203560
NM_005359.5(SMAD4):c.153dupA (p.Asp52Argfs) rs786203560
NM_005359.5(SMAD4):c.1585_1586dupTT (p.Leu529Phefs) rs876660150
NM_005359.5(SMAD4):c.275_276delAT (p.His92Argfs) rs1555685156
NM_005359.5(SMAD4):c.297G>A (p.Trp99Ter) rs876660079
NM_005359.5(SMAD4):c.430_431delTC (p.Ser144Argfs) rs377767328
NM_005359.5(SMAD4):c.533C>G (p.Ser178Ter) rs377767331
NM_005359.5(SMAD4):c.692dupG (p.Ser232Glnfs) rs377767334
NM_005359.5(SMAD4):c.752delA (p.Asn251Metfs) rs1555685925
NM_005359.5(SMAD4):c.898_904+1dupCATTACTG rs1555685974
NM_005359.5(SMAD4):c.903delC (p.Trp302Glyfs) rs1555685978
NM_005359.5(SMAD4):c.905G>A (p.Trp302Ter) rs1555686071
NM_005359.5(SMAD4):c.931C>T (p.Gln311Ter) rs876658694

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