ClinVar Miner

List of variants in gene SMAD4 reported as pathogenic for not provided

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Total variants: 19
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HGVS dbSNP
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1134_1135delAG (p.Arg378Serfs) rs1555686503
NM_005359.5(SMAD4):c.1140-1G>A rs1555686594
NM_005359.5(SMAD4):c.1231_1232delAG (p.Ser411Leufs) rs730881952
NM_005359.5(SMAD4):c.1239C>A (p.Tyr413Ter) rs730881954
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.1338_1339delGA (p.Gln446Hisfs) rs730881957
NM_005359.5(SMAD4):c.1351_1375del25 (p.Ala451Leufs) rs587780124
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.1499T>C (p.Ile500Thr) rs281875321
NM_005359.5(SMAD4):c.153dupA (p.Asp52Argfs) rs786203560
NM_005359.5(SMAD4):c.1547dupA (p.Ser517Glufs) rs587783060
NM_005359.5(SMAD4):c.326delTinsAAATATGAAC (p.Leu109_Cys443delinsGlnIleTer) rs727504151
NM_005359.5(SMAD4):c.669_691delTCAGCCTGCCAGTATACTGGGGG (p.Ser223Argfs) rs1064793271
NM_005359.5(SMAD4):c.728_735delGGCCTCAG (p.Gly243Alafs) rs1060500742
NM_005359.5(SMAD4):c.752delA (p.Asn251Metfs) rs1555685925
NM_005359.5(SMAD4):c.903C>G (p.Tyr301Ter) rs746084369

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