ClinVar Miner

List of variants in gene SMAD4 reported by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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Gene type:
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.956-31G>A rs11875522 0.04946
NM_005359.6(SMAD4):c.455-43A>T rs149541014 0.00759
NM_005359.6(SMAD4):c.1308+33_1308+34del rs201683280 0.00695
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_005359.6(SMAD4):c.249+24A>G rs77389132 0.00278
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_005359.6(SMAD4):c.1448-33T>A rs368121123 0.00036
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_005359.6(SMAD4):c.1448-49G>C rs375313666 0.00025
NM_005359.6(SMAD4):c.*12G>A rs148687037 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005359.6(SMAD4):c.454+38G>C rs201924714 0.00010
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_005359.6(SMAD4):c.249+16G>A rs751563004 0.00004
NM_005359.6(SMAD4):c.1215C>T (p.His405=) rs751732234 0.00003
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) rs1057520520 0.00001
NM_005359.6(SMAD4):c.470T>C (p.Met157Thr) rs756675590 0.00001
NM_005359.6(SMAD4):c.566G>A (p.Arg189His) rs759288477 0.00001
NM_005359.6(SMAD4):c.672G>A (p.Gln224=) rs1397172791 0.00001
NM_005359.6(SMAD4):c.788-31C>T rs1342126153 0.00001
NM_005359.6(SMAD4):c.855C>T (p.Asn285=) rs1187796771 0.00001
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) rs730881953 0.00001
NM_005359.6(SMAD4):c.955+15A>G rs185228929 0.00001
NM_005359.6(SMAD4):c.956-17C>T rs1315017766 0.00001
NM_005359.6(SMAD4):c.-5_3del (p.Met1fs) rs2144400060
NM_005359.6(SMAD4):c.1101C>A (p.Leu367=) rs765051479
NM_005359.6(SMAD4):c.1139+44T>C rs28539779
NM_005359.6(SMAD4):c.1140-26A>C
NM_005359.6(SMAD4):c.1140-35T>C
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1309-2dup
NM_005359.6(SMAD4):c.1309-48G>A rs1452486660
NM_005359.6(SMAD4):c.1311C>T (p.Val437=)
NM_005359.6(SMAD4):c.1320G>A (p.Leu440=) rs1599204046
NM_005359.6(SMAD4):c.1529dup (p.Pro511fs)
NM_005359.6(SMAD4):c.21G>T (p.Thr7=) rs142292491
NM_005359.6(SMAD4):c.250-41C>T
NM_005359.6(SMAD4):c.250-41_250-42delinsTT
NM_005359.6(SMAD4):c.250-42G>T
NM_005359.6(SMAD4):c.454+23C>T
NM_005359.6(SMAD4):c.633T>C (p.Thr211=) rs1060504027
NM_005359.6(SMAD4):c.667+30A>G
NM_005359.6(SMAD4):c.668-26A>G
NM_005359.6(SMAD4):c.756A>G (p.Gly252=) rs1244121412
NM_005359.6(SMAD4):c.895G>A (p.Gly299Arg) rs1330888967
NM_005359.6(SMAD4):c.904+36_904+37insAT
NM_005359.6(SMAD4):c.904+37T>G
NM_005359.6(SMAD4):c.904+43_904+45dup rs386387676
NM_005359.6(SMAD4):c.904+44_904+45del rs386387676
NM_005359.6(SMAD4):c.904+45del rs386387676
NM_005359.6(SMAD4):c.904+45dup rs386387676
NM_005359.6(SMAD4):c.904+49A>T rs754541078

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