ClinVar Miner

List of variants in gene SMAD2 reported as uncertain significance by GeneDx

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_005901.6(SMAD2):c.389G>A (p.Arg130Gln) rs372254986 0.00003
NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg) rs746828424 0.00002
NM_005901.6(SMAD2):c.448G>A (p.Glu150Lys) rs200841904 0.00002
NM_005901.6(SMAD2):c.1297A>G (p.Ser433Gly) rs1913990153 0.00001
NM_005901.6(SMAD2):c.1385G>A (p.Arg462His) rs773849578 0.00001
NM_005901.6(SMAD2):c.23C>T (p.Thr8Met) rs1341462958 0.00001
NM_005901.6(SMAD2):c.341G>A (p.Arg114His) rs1404495202 0.00001
NM_005901.6(SMAD2):c.687T>C (p.Asp229=) rs763972729 0.00001
NM_005901.6(SMAD2):c.997+5G>A rs1222630136 0.00001
NM_005901.6(SMAD2):c.1049_1051del (p.Leu350_Ser351delinsArg)
NM_005901.6(SMAD2):c.1063A>G (p.Ile355Val)
NM_005901.6(SMAD2):c.1174G>A (p.Ala392Thr) rs2144287966
NM_005901.6(SMAD2):c.1279C>T (p.Arg427Ter) rs1914395206
NM_005901.6(SMAD2):c.1281-11C>A rs781677330
NM_005901.6(SMAD2):c.1294A>C (p.Thr432Pro) rs2144277057
NM_005901.6(SMAD2):c.1294A>G (p.Thr432Ala)
NM_005901.6(SMAD2):c.1322A>C (p.His441Pro) rs2144276748
NM_005901.6(SMAD2):c.1376C>T (p.Pro459Leu) rs2144276207
NM_005901.6(SMAD2):c.1378T>A (p.Ser460Thr) rs2144276177
NM_005901.6(SMAD2):c.227C>A (p.Thr76Asn)
NM_005901.6(SMAD2):c.323C>G (p.Thr108Ser) rs752221087
NM_005901.6(SMAD2):c.381A>G (p.Ile127Met)
NM_005901.6(SMAD2):c.447C>G (p.Cys149Trp) rs1221948555
NM_005901.6(SMAD2):c.587A>G (p.Tyr196Cys) rs2031718183
NM_005901.6(SMAD2):c.619C>G (p.Pro207Ala) rs2144373030
NM_005901.6(SMAD2):c.649A>G (p.Ile217Val)
NM_005901.6(SMAD2):c.727A>G (p.Thr243Ala) rs2144362208
NM_005901.6(SMAD2):c.734C>G (p.Ser245Cys) rs2144318948
NM_005901.6(SMAD2):c.757A>G (p.Thr253Ala) rs2144318911
NM_005901.6(SMAD2):c.812C>T (p.Pro271Leu)
NM_005901.6(SMAD2):c.908C>T (p.Thr303Ile) rs2144300077
NM_005901.6(SMAD2):c.941G>A (p.Gly314Asp) rs2144299769
NM_005901.6(SMAD2):c.995T>C (p.Ile332Thr) rs1555645561

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