ClinVar Miner

List of variants in gene SMAD4 reported by Quest Diagnostics Nichols Institute San Juan Capistrano

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Total variants: 39
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HGVS dbSNP
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321
NM_005359.6(SMAD4):c.1045dup (p.Thr349fs) rs1599195433
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.6(SMAD4):c.1140-10T>C rs186332162
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078
NM_005359.6(SMAD4):c.1269A>C (p.Gly423=) rs1052676207
NM_005359.6(SMAD4):c.1353G>A (p.Ala451=) rs1441353791
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) rs1057520520
NM_005359.6(SMAD4):c.1494A>G (p.Leu498=) rs772479430
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.6(SMAD4):c.424+5G>A rs200772603
NM_005359.6(SMAD4):c.455-6A>G rs181178864
NM_005359.6(SMAD4):c.554C>A (p.Pro185Gln) rs770798845
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005359.6(SMAD4):c.573G>A (p.Ser191=) rs761936246
NM_005359.6(SMAD4):c.582A>G (p.Thr194=) rs145805120
NM_005359.6(SMAD4):c.606C>G (p.Ala202=) rs780665234
NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala) rs770461626
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793
NM_005359.6(SMAD4):c.682A>G (p.Ile228Val) rs1280682459
NM_005359.6(SMAD4):c.721G>A (p.Ala241Thr) rs1599189522
NM_005359.6(SMAD4):c.787+7A>G rs779803439
NM_005359.6(SMAD4):c.800C>T (p.Thr267Ile) rs1555685955
NM_005359.6(SMAD4):c.822A>C (p.Ala274=) rs1599189780
NM_005359.6(SMAD4):c.822_823delinsCG (p.Pro275Ala) rs1599189787
NM_005359.6(SMAD4):c.823C>G (p.Pro275Ala) rs1599189789
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500
NM_005359.6(SMAD4):c.894C>T (p.Pro298=) rs781519690
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) rs730881953
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288
NM_005359.6(SMAD4):c.955+7G>A rs200386455

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