ClinVar Miner

List of variants in gene SMAD3 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 241
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.207-26500T>C rs959504 0.96997
NM_005902.4(SMAD3):c.207-27010T>C rs1866318 0.96991
NM_005902.4(SMAD3):c.533-187C>T rs7179840 0.67237
NM_005902.4(SMAD3):c.400+59G>C rs2289261 0.61732
NM_005902.4(SMAD3):c.1009+248C>T rs55894213 0.46065
NM_005902.4(SMAD3):c.*2227G>A rs11638476 0.31592
NM_005902.4(SMAD3):c.207-38842A>G rs4776342 0.29814
NM_005902.4(SMAD3):c.207-39000G>A rs8028147 0.29657
NM_005902.4(SMAD3):c.207-39129G>A rs11636161 0.25577
NM_005902.4(SMAD3):c.872-113G>T rs2289791 0.22527
NM_005902.4(SMAD3):c.872-95T>C rs2289790 0.22233
NM_005902.4(SMAD3):c.872-330G>A rs7181877 0.21605
NM_005902.4(SMAD3):c.872-297C>T rs7181556 0.21538
NM_005902.4(SMAD3):c.872-309C>T rs7181543 0.21340
NM_005902.4(SMAD3):c.533-478T>C rs17228212 0.20997
NM_005902.4(SMAD3):c.*2282C>T rs12595334 0.19274
NM_005902.4(SMAD3):c.532+128G>A rs2289259 0.16225
NM_005902.4(SMAD3):c.533-104C>T rs7179893 0.15834
NM_005902.4(SMAD3):c.207-39028G>A rs16950635 0.07150
NM_005902.4(SMAD3):c.207-26681T>C rs12914140 0.06825
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_005902.4(SMAD3):c.532+118G>A rs56336520 0.02492
NM_005902.4(SMAD3):c.1155-55A>G rs28410524 0.01927
NM_005902.4(SMAD3):c.1009+69G>C rs58056680 0.01875
NM_005902.4(SMAD3):c.*843G>A rs55970514 0.01590
NM_005902.4(SMAD3):c.1155-54C>T rs28774694 0.01542
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_005902.4(SMAD3):c.533-510A>G rs186178811 0.01213
NM_005902.4(SMAD3):c.607+166G>A rs28719801 0.01168
NM_005902.4(SMAD3):c.1155-160C>T rs116727612 0.01167
NM_005902.4(SMAD3):c.1009+159T>C rs117564349 0.01098
NM_005902.4(SMAD3):c.*2229A>G rs188412401 0.01091
NM_005902.4(SMAD3):c.207-26896G>A rs146714608 0.01070
NM_005902.4(SMAD3):c.872-94C>T rs72661157 0.01010
NM_005902.4(SMAD3):c.658+58C>T rs56070432 0.00997
NM_005902.4(SMAD3):c.533-289G>A rs75579860 0.00979
NM_005902.4(SMAD3):c.1155-109C>T rs72661158 0.00963
NM_005902.4(SMAD3):c.1009+314C>T rs116235248 0.00752
NM_005902.4(SMAD3):c.659-287G>A rs115553157 0.00719
NM_005902.4(SMAD3):c.207-261A>G rs188879376 0.00645
NM_005902.4(SMAD3):c.533-690G>T rs189793484 0.00620
NM_005902.4(SMAD3):c.659-30A>G rs111328648 0.00609
NM_005902.4(SMAD3):c.*2489C>T rs80226876 0.00465
NM_005902.4(SMAD3):c.206+184A>G rs557761351 0.00456
NM_005902.4(SMAD3):c.206+74G>A rs142291101 0.00407
NM_005902.4(SMAD3):c.658+99C>T rs61258186 0.00316
NM_005902.4(SMAD3):c.*579del rs550707472 0.00264
NM_005902.4(SMAD3):c.*3126C>T rs62014610 0.00257
NM_005902.4(SMAD3):c.*301C>T rs72661159 0.00215
NM_005902.4(SMAD3):c.*2547C>T rs72661161 0.00096
NM_005902.4(SMAD3):c.*1325T>C rs139620908 0.00052
NM_005902.4(SMAD3):c.483C>T (p.Pro161=) rs202203039 0.00038
NM_005902.4(SMAD3):c.*798G>A rs138327222 0.00037
NM_005902.4(SMAD3):c.207-11C>T rs148430981 0.00026
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_005902.4(SMAD3):c.872-19C>G rs74421858 0.00025
NM_005902.4(SMAD3):c.533-585G>T rs762320351 0.00022
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530 0.00016
NM_005902.4(SMAD3):c.687G>A (p.Pro229=) rs138940179 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=) rs753875974 0.00010
NM_005902.4(SMAD3):c.457C>T (p.Leu153=) rs145380987 0.00010
NM_005902.4(SMAD3):c.714C>T (p.Tyr238=) rs149443777 0.00009
NM_005902.4(SMAD3):c.783C>T (p.Thr261=) rs370620091 0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_005902.4(SMAD3):c.933C>T (p.Ser311=) rs771384141 0.00008
NM_005902.4(SMAD3):c.1128C>T (p.Phe376=) rs560348826 0.00007
NM_005902.4(SMAD3):c.510C>T (p.Ile170=) rs375925515 0.00006
NM_005902.4(SMAD3):c.990C>T (p.Thr330=) rs774470515 0.00006
NM_005902.4(SMAD3):c.1044C>T (p.Phe348=) rs751780616 0.00005
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) rs377026877 0.00005
NM_005902.4(SMAD3):c.607+4A>C rs1465673227 0.00005
NM_005902.4(SMAD3):c.607+9T>A rs886051380 0.00005
NM_005902.4(SMAD3):c.872-4G>A rs776577220 0.00005
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324 0.00004
NM_005902.4(SMAD3):c.1155-11A>G rs184839478 0.00004
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.708C>T (p.Ser236=) rs745390727 0.00003
NM_005902.4(SMAD3):c.1145C>T (p.Ala382Val) rs779602560 0.00002
NM_005902.4(SMAD3):c.210C>T (p.Ser70=) rs1224939970 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.*6del rs772778568 0.00001
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.195C>T (p.Ile65=) rs368462984 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.277C>T (p.Arg93Ter) rs768713596 0.00001
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser) rs369221296 0.00001
NM_005902.4(SMAD3):c.363C>T (p.Cys121=) rs760286714 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.450C>T (p.Phe150=) rs755354518 0.00001
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln) rs375574124 0.00001
NM_005902.4(SMAD3):c.501C>T (p.Pro167=) rs138395233 0.00001
NM_005902.4(SMAD3):c.532+46G>A rs375065340 0.00001
NM_005902.4(SMAD3):c.597C>T (p.Ser199=) rs769225687 0.00001
NM_005902.4(SMAD3):c.607+34C>A rs561002374 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
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442 0.00001
NM_005902.4(SMAD3):c.821T>C (p.Leu274Pro) rs863223741 0.00001
GRCh37/hg19 15q22.31-22.33(chr15:67151901-67423565)x3
NM_005902.4(SMAD3):c.*3658G>A
NM_005902.4(SMAD3):c.1002C>A (p.Ile334=) rs748178271
NM_005902.4(SMAD3):c.1010-1G>C rs2140323368
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.1059C>T (p.Ala353=) rs767649515
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.1086_1098dup (p.Thr367fs) rs1555414236
NM_005902.4(SMAD3):c.1102C>T (p.Arg368Ter) rs757106110
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.1118G>A (p.Arg373His) rs1060500766
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.1222G>C (p.Asp408His) rs201263330
NM_005902.4(SMAD3):c.1228G>T (p.Val410Phe) rs863223748
NM_005902.4(SMAD3):c.1229_1244del (p.Val410fs) rs1555414495
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.137G>A (p.Gly46Glu)
NM_005902.4(SMAD3):c.148G>A (p.Glu50Lys) rs863223751
NM_005902.4(SMAD3):c.154G>T (p.Glu52Ter) rs863223762
NM_005902.4(SMAD3):c.167C>G (p.Thr56Ser)
NM_005902.4(SMAD3):c.203C>T (p.Pro68Leu)
NM_005902.4(SMAD3):c.206+15G>C rs1595882218
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.263dup (p.Tyr88Ter) rs863223770
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.275_281delinsC (p.Trp92_Trp94delinsSer) rs863223756
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.313del (p.Ala105fs) rs587776882
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.346AAG[1] (p.Lys117del) rs2140294164
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.387_388del (p.Arg129fs) rs863223757
NM_005902.4(SMAD3):c.398del (p.Pro133fs) rs1595941909
NM_005902.4(SMAD3):c.400+58dup rs72661155
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005902.4(SMAD3):c.401-7C>A rs774268232
NM_005902.4(SMAD3):c.427_431del (p.His143fs) rs1060500773
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu) rs751860407
NM_005902.4(SMAD3):c.455del (p.Pro152fs) rs863223759
NM_005902.4(SMAD3):c.480C>A (p.Ile160=) rs1566991810
NM_005902.4(SMAD3):c.483del (p.Glu162fs) rs863223771
NM_005902.4(SMAD3):c.519G>C (p.Gln173His) rs1064796949
NM_005902.4(SMAD3):c.532+158C>A rs140143645
NM_005902.4(SMAD3):c.532+16G>A rs1595942399
NM_005902.4(SMAD3):c.533-585G>A rs762320351
NM_005902.4(SMAD3):c.533-589G>A rs112991343
NM_005902.4(SMAD3):c.545dup (p.Gly183fs) rs1291288543
NM_005902.4(SMAD3):c.54del (p.Gly17_Trp18insTer) rs1064794789
NM_005902.4(SMAD3):c.57G>T (p.Lys19Asn)
NM_005902.4(SMAD3):c.591C>T (p.Asn197=) rs2140296869
NM_005902.4(SMAD3):c.607+65_607+73del rs368492871
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.648del (p.His216fs) rs1555412629
NM_005902.4(SMAD3):c.64G>A (p.Glu22Lys) rs2140188822
NM_005902.4(SMAD3):c.658+164C>T rs118128985
NM_005902.4(SMAD3):c.659-268TAAA[10] rs60300820
NM_005902.4(SMAD3):c.659-268TAAA[11] rs60300820
NM_005902.4(SMAD3):c.659-268TAAA[7] rs60300820
NM_005902.4(SMAD3):c.659-268TAAA[8] rs60300820
NM_005902.4(SMAD3):c.682G>A (p.Glu228Lys) rs863223735
NM_005902.4(SMAD3):c.696G>A (p.Trp232Ter)
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.715G>A (p.Glu239Lys) rs387906853
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.733G>A (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.742T>G (p.Phe248Val)
NM_005902.4(SMAD3):c.744C>A (p.Phe248Leu)
NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter) rs1566999458
NM_005902.4(SMAD3):c.763_764insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA (p.Met255fs) rs1595956573
NM_005902.4(SMAD3):c.769del (p.Val257fs) rs1555413562
NM_005902.4(SMAD3):c.772G>C (p.Asp258His) rs863223738
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.802C>T (p.Arg268Cys) rs794727798
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
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.82G>T (p.Glu28Ter) rs863223750
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.859C>T (p.Arg287Trp) rs387906850
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.4(SMAD3):c.871+1G>T rs1595956832
NM_005902.4(SMAD3):c.871+25C>A rs775394029
NM_005902.4(SMAD3):c.871+30del rs3214743
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.942del (p.Phe314fs) rs863223768
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
NM_005902.4(SMAD3):c.990dup (p.Val331fs) rs863223754

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