ClinVar Miner

List of variants in gene SMAD3 reported as uncertain significance for not provided

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Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_005902.4(SMAD3):c.533-585G>T rs762320351 0.00022
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=) rs753875974 0.00010
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) rs377026877 0.00005
NM_005902.4(SMAD3):c.74G>T (p.Gly25Val) rs191612061 0.00004
NM_005902.4(SMAD3):c.879C>T (p.Gly293=) rs769683236 0.00004
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser) rs140880290 0.00003
NM_005902.4(SMAD3):c.1120A>G (p.Met374Val) rs370394986 0.00003
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val) rs1317532064 0.00003
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys) rs1206533102 0.00003
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622 0.00003
NM_005902.4(SMAD3):c.533-13_533-10del rs752716057 0.00003
NM_005902.4(SMAD3):c.632C>T (p.Pro211Leu) rs772510704 0.00003
NM_005902.4(SMAD3):c.1145C>T (p.Ala382Val) rs779602560 0.00002
NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr) rs770798158 0.00002
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg) rs755924969 0.00002
NM_005902.4(SMAD3):c.968G>A (p.Arg323His) rs758586312 0.00002
NM_005902.4(SMAD3):c.179T>C (p.Val60Ala) rs1242358787 0.00001
NM_005902.4(SMAD3):c.189G>C (p.Lys63Asn) rs1555405116 0.00001
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp) rs1343295267 0.00001
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys) rs1085307496 0.00001
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser) rs369221296 0.00001
NM_005902.4(SMAD3):c.391G>C (p.Glu131Gln) rs750982529 0.00001
NM_005902.4(SMAD3):c.401T>C (p.Val134Ala) rs863223767 0.00001
NM_005902.4(SMAD3):c.424C>T (p.Arg142Cys) rs1253901433 0.00001
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln) rs375574124 0.00001
NM_005902.4(SMAD3):c.607+5G>T rs772419612 0.00001
NM_005902.4(SMAD3):c.607G>A (p.Gly203Ser) rs1416583276 0.00001
NM_005902.4(SMAD3):c.784G>A (p.Asp262Asn) rs1201995588 0.00001
GRCh37/hg19 15q22.31-22.33(chr15:67151901-67423565)x3
NM_005902.4(SMAD3):c.1019T>C (p.Leu340Pro) rs2140323401
NM_005902.4(SMAD3):c.1033A>C (p.Asn345His) rs2140323442
NM_005902.4(SMAD3):c.1035C>G (p.Asn345Lys) rs1304126587
NM_005902.4(SMAD3):c.1064C>T (p.Ser355Leu) rs752776110
NM_005902.4(SMAD3):c.1081G>A (p.Glu361Lys) rs387906856
NM_005902.4(SMAD3):c.1081G>C (p.Glu361Gln) rs387906856
NM_005902.4(SMAD3):c.1103G>A (p.Arg368Gln)
NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle) rs863223769
NM_005902.4(SMAD3):c.110_121del (p.Ser37_Lys40del) rs863223755
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys) rs863223746
NM_005902.4(SMAD3):c.1121T>A (p.Met374Lys) rs1555414240
NM_005902.4(SMAD3):c.1142G>T (p.Gly381Val) rs1963252519
NM_005902.4(SMAD3):c.1150T>C (p.Tyr384His) rs2140323802
NM_005902.4(SMAD3):c.1151A>G (p.Tyr384Cys) rs2140323808
NM_005902.4(SMAD3):c.1165G>A (p.Val389Met) rs863223747
NM_005902.4(SMAD3):c.1177C>G (p.Pro393Ala) rs2140327731
NM_005902.4(SMAD3):c.1187T>C (p.Ile396Thr) rs1595965957
NM_005902.4(SMAD3):c.119A>G (p.Lys40Arg) rs2140188975
NM_005902.4(SMAD3):c.1211T>C (p.Leu404Ser) rs1555414491
NM_005902.4(SMAD3):c.1228G>T (p.Val410Phe) rs863223748
NM_005902.4(SMAD3):c.137G>A (p.Gly46Glu)
NM_005902.4(SMAD3):c.148G>A (p.Glu50Lys) rs863223751
NM_005902.4(SMAD3):c.167C>G (p.Thr56Ser)
NM_005902.4(SMAD3):c.203C>T (p.Pro68Leu)
NM_005902.4(SMAD3):c.206+2T>G rs2140189216
NM_005902.4(SMAD3):c.207-26797del rs1291138310
NM_005902.4(SMAD3):c.207-26834G>A
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln) rs1566991387
NM_005902.4(SMAD3):c.239G>C (p.Arg80Pro) rs758823376
NM_005902.4(SMAD3):c.243G>T (p.Lys81Asn) rs1555412065
NM_005902.4(SMAD3):c.244G>A (p.Gly82Arg) rs1566991421
NM_005902.4(SMAD3):c.260T>C (p.Ile87Thr) rs863223764
NM_005902.4(SMAD3):c.263A>G (p.Tyr88Cys) rs1595941635
NM_005902.4(SMAD3):c.266G>A (p.Cys89Tyr) rs1962535460
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln) rs863223765
NM_005902.4(SMAD3):c.284C>G (p.Pro95Arg)
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys) rs1962537574
NM_005902.4(SMAD3):c.317T>C (p.Met106Thr) rs1301737199
NM_005902.4(SMAD3):c.325T>C (p.Cys109Arg) rs1555412079
NM_005902.4(SMAD3):c.359T>A (p.Val120Asp) rs1962540440
NM_005902.4(SMAD3):c.377A>G (p.His126Arg) rs863223766
NM_005902.4(SMAD3):c.401-7C>A rs774268232
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu) rs751860407
NM_005902.4(SMAD3):c.519G>C (p.Gln173His) rs1064796949
NM_005902.4(SMAD3):c.533-585G>A rs762320351
NM_005902.4(SMAD3):c.57G>T (p.Lys19Asn)
NM_005902.4(SMAD3):c.615_626del (p.Leu207_Asn210del) rs1064796965
NM_005902.4(SMAD3):c.626C>G (p.Pro209Arg)
NM_005902.4(SMAD3):c.64G>A (p.Glu22Lys) rs2140188822
NM_005902.4(SMAD3):c.682G>A (p.Glu228Lys) rs863223735
NM_005902.4(SMAD3):c.696G>C (p.Trp232Cys) rs778356642
NM_005902.4(SMAD3):c.709TAC[1] (p.Tyr238del) rs863223752
NM_005902.4(SMAD3):c.727C>G (p.Arg243Gly) rs886039137
NM_005902.4(SMAD3):c.728G>A (p.Arg243His) rs863223736
NM_005902.4(SMAD3):c.728G>C (p.Arg243Pro) rs863223736
NM_005902.4(SMAD3):c.742T>G (p.Phe248Val)
NM_005902.4(SMAD3):c.744C>A (p.Phe248Leu)
NM_005902.4(SMAD3):c.786_800del (p.Asp262_Ser266del) rs863223753
NM_005902.4(SMAD3):c.788C>G (p.Pro263Arg) rs387906855
NM_005902.4(SMAD3):c.808T>C (p.Cys270Arg) rs2140314294
NM_005902.4(SMAD3):c.814G>A (p.Gly272Arg) rs1057524127
NM_005902.4(SMAD3):c.814G>C (p.Gly272Arg) rs1057524127
NM_005902.4(SMAD3):c.839A>G (p.Asn280Ser) rs1433790279
NM_005902.4(SMAD3):c.842C>T (p.Ala281Val) rs1963053530
NM_005902.4(SMAD3):c.871+3A>G rs1595956841
NM_005902.4(SMAD3):c.880G>A (p.Val294Met) rs863223744
NM_005902.4(SMAD3):c.925A>G (p.Ser309Gly) rs754409301
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr) rs750756638
NM_005902.4(SMAD3):c.947A>C (p.Gln316Pro) rs863223745
NM_005902.4(SMAD3):c.956A>G (p.Asn319Ser) rs1057524771
NM_005902.4(SMAD3):c.96G>C (p.Glu32Asp) rs1450927153

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