ClinVar Miner

List of variants in gene SMAD4 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.*5131A>G rs12456284 0.19420
NM_005359.6(SMAD4):c.905-52A>G rs948589 0.05280
NM_005359.6(SMAD4):c.*1179T>C rs10470 0.02819
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
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.1140-10T>C rs186332162 0.00221
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.521C>A (p.Thr174Asn) rs138800446 0.00014
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983 0.00005
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078 0.00004
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.425-17C>T rs767419859 0.00002
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) rs147621330 0.00001
NM_005359.6(SMAD4):c.276T>C (p.His92=) rs762501162 0.00001
NM_005359.6(SMAD4):c.325C>T (p.Leu109=) rs1248541873 0.00001
NM_005359.6(SMAD4):c.525A>G (p.Glu175=) rs368528856 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005359.6(SMAD4):c.698A>G (p.His233Arg) rs1555685910 0.00001
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe) rs1229812463 0.00001
NM_005359.6(SMAD4):c.956-4A>G rs1295343500 0.00001
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1447+9G>A rs878854766
NM_005359.6(SMAD4):c.553C>T (p.Pro185Ser) rs2144418704
NM_005359.6(SMAD4):c.787+15T>G rs374687785

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