ClinVar Miner

List of variants in gene SMAD2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 321
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HGVS dbSNP gnomAD frequency
NM_005901.6(SMAD2):c.521-283C>G rs1787176 0.54549
NM_005901.6(SMAD2):c.1280+202G>A rs1787186 0.43123
NM_005901.6(SMAD2):c.1281-266C>T rs1792689 0.14104
NM_005901.6(SMAD2):c.521-91A>G rs1787177 0.04727
NM_005901.6(SMAD2):c.1281-136G>A rs79502327 0.04517
NM_005901.6(SMAD2):c.655+93T>A rs114830160 0.03672
NM_005901.6(SMAD2):c.1280+25A>G rs9956201 0.03539
NM_005901.6(SMAD2):c.-53-147A>G rs16958602 0.03077
NM_005901.6(SMAD2):c.520+159T>A rs115059505 0.02634
NM_005901.6(SMAD2):c.1280+16T>C rs72661148 0.02401
NM_005901.6(SMAD2):c.1281-318C>T rs113061941 0.01853
NM_005901.6(SMAD2):c.828G>A (p.Ser276=) rs1051066 0.01853
NM_005901.6(SMAD2):c.656-235A>G rs16958554 0.01848
NM_005901.6(SMAD2):c.785-94G>A rs112826329 0.01227
NM_005901.6(SMAD2):c.730+184T>A rs111771114 0.00982
NM_005901.6(SMAD2):c.730+11T>A rs191998339 0.00929
NM_005901.6(SMAD2):c.997+88T>G rs77958995 0.00905
NM_005901.6(SMAD2):c.785-87T>A rs115230711 0.00819
NM_005901.6(SMAD2):c.730+74A>G rs72661147 0.00807
NM_005901.6(SMAD2):c.1281-248A>T rs115997087 0.00707
NM_005901.6(SMAD2):c.997+18T>G rs139429167 0.00667
NM_005901.6(SMAD2):c.*93A>G rs9304356 0.00529
NM_005901.6(SMAD2):c.785-277A>G rs78937680 0.00503
NM_005901.6(SMAD2):c.730+107A>G rs117289846 0.00465
NM_005901.6(SMAD2):c.327-69C>T rs79504033 0.00437
NM_005901.6(SMAD2):c.326+215T>G rs73443904 0.00391
NM_005901.6(SMAD2):c.730+70A>G rs73441797 0.00391
NM_005901.6(SMAD2):c.998-18A>G rs189675475 0.00153
NM_005901.6(SMAD2):c.236+10G>T rs372032894 0.00036
NM_005901.6(SMAD2):c.785-9C>A rs377290715 0.00024
NM_005901.6(SMAD2):c.1176T>C (p.Ala392=) rs146123397 0.00023
NM_005901.6(SMAD2):c.520+5G>A rs200086333 0.00022
NM_005901.6(SMAD2):c.327-20T>C rs201367323 0.00019
NM_005901.6(SMAD2):c.972G>A (p.Thr324=) rs372655472 0.00019
NM_005901.6(SMAD2):c.579G>A (p.Leu193=) rs200480021 0.00013
NM_005901.6(SMAD2):c.1032A>G (p.Glu344=) rs140112787 0.00009
NM_005901.6(SMAD2):c.1136-13T>A rs759454890 0.00006
NM_005901.6(SMAD2):c.789A>G (p.Leu263=) rs2282656 0.00006
NM_005901.6(SMAD2):c.997+11T>C rs184243744 0.00006
NM_005901.6(SMAD2):c.997+13T>C rs772205482 0.00006
NM_005901.6(SMAD2):c.1136-10T>C rs968174811 0.00005
NM_005901.6(SMAD2):c.1245A>G (p.Arg415=) rs772311710 0.00005
NM_005901.6(SMAD2):c.747A>G (p.Leu249=) rs146872557 0.00005
NM_005901.6(SMAD2):c.242G>T (p.Cys81Phe) rs908853616 0.00004
NM_005901.6(SMAD2):c.389G>A (p.Arg130Gln) rs372254986 0.00004
NM_005901.6(SMAD2):c.520+4G>A rs764335408 0.00004
NM_005901.6(SMAD2):c.971C>T (p.Thr324Met) rs561086683 0.00004
NM_005901.6(SMAD2):c.784+7T>A rs1429670443 0.00003
NM_005901.6(SMAD2):c.237-6G>A rs748260315 0.00002
NM_005901.6(SMAD2):c.24G>A (p.Thr8=) rs1312247665 0.00002
NM_005901.6(SMAD2):c.1280+19G>A rs776596173 0.00001
NM_005901.6(SMAD2):c.1385G>A (p.Arg462His) rs773849578 0.00001
NM_005901.6(SMAD2):c.162A>G (p.Lys54=) rs779979481 0.00001
NM_005901.6(SMAD2):c.23C>T (p.Thr8Met) rs1341462958 0.00001
NM_005901.6(SMAD2):c.268C>T (p.Pro90Ser) rs756023240 0.00001
NM_005901.6(SMAD2):c.363A>G (p.Lys121=) rs774563790 0.00001
NM_005901.6(SMAD2):c.544C>A (p.Arg182=) rs370352616 0.00001
NM_005901.6(SMAD2):c.556A>T (p.Ile186Phe) rs773233757 0.00001
NM_005901.6(SMAD2):c.572C>T (p.Pro191Leu) rs1293658510 0.00001
NM_005901.6(SMAD2):c.594C>T (p.His198=) rs748905875 0.00001
NM_005901.6(SMAD2):c.634C>G (p.Pro212Ala) rs1256444049 0.00001
NM_005901.6(SMAD2):c.655+14C>T rs765399650 0.00001
NM_005901.6(SMAD2):c.705A>G (p.Gln235=) rs149875839 0.00001
NM_005901.6(SMAD2):c.730+5A>G rs1362516163 0.00001
NM_005901.6(SMAD2):c.997+19G>A rs776875320 0.00001
NM_005901.6(SMAD2):c.997+5G>A rs1222630136 0.00001
GRCh37/hg19 18q21.1(chr18:44867535-45445398)x3
NC_000018.9:g.(?_45368198)_(45375078_?)del
NC_000018.9:g.(?_45368198)_(45423127_?)del
NM_005901.6(SMAD2):c.1000A>C (p.Arg334=)
NM_005901.6(SMAD2):c.1014A>T (p.Leu338Phe)
NM_005901.6(SMAD2):c.1017C>T (p.Tyr339=)
NM_005901.6(SMAD2):c.1044G>A (p.Glu348=)
NM_005901.6(SMAD2):c.1045T>C (p.Cys349Arg)
NM_005901.6(SMAD2):c.1049_1051del (p.Leu350_Ser351delinsArg)
NM_005901.6(SMAD2):c.1050A>G (p.Leu350=) rs2144290666
NM_005901.6(SMAD2):c.1059T>C (p.Ser353=)
NM_005901.6(SMAD2):c.1063A>G (p.Ile355Val)
NM_005901.6(SMAD2):c.1082A>G (p.Asn361Ser)
NM_005901.6(SMAD2):c.1088A>G (p.Asn363Ser)
NM_005901.6(SMAD2):c.1098T>C (p.Tyr366=)
NM_005901.6(SMAD2):c.1104G>T (p.Trp368Cys)
NM_005901.6(SMAD2):c.1110T>C (p.Pro370=)
NM_005901.6(SMAD2):c.1116A>G (p.Thr372=)
NM_005901.6(SMAD2):c.1131A>C (p.Pro377=)
NM_005901.6(SMAD2):c.1135+12A>G
NM_005901.6(SMAD2):c.1135+14A>G
NM_005901.6(SMAD2):c.1136-4A>G
NM_005901.6(SMAD2):c.1136-5C>T
NM_005901.6(SMAD2):c.1136-9T>A
NM_005901.6(SMAD2):c.1136-9del
NM_005901.6(SMAD2):c.1146G>A (p.Leu382=)
NM_005901.6(SMAD2):c.1150A>G (p.Ile384Val)
NM_005901.6(SMAD2):c.1161C>G (p.Asn387Lys)
NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg) rs746828424
NM_005901.6(SMAD2):c.1166A>G (p.Glu389Gly)
NM_005901.6(SMAD2):c.1174G>A (p.Ala392Thr)
NM_005901.6(SMAD2):c.1174G>T (p.Ala392Ser)
NM_005901.6(SMAD2):c.1179T>C (p.Leu393=)
NM_005901.6(SMAD2):c.1181T>C (p.Leu394Pro)
NM_005901.6(SMAD2):c.1183G>T (p.Ala395Ser)
NM_005901.6(SMAD2):c.1186C>T (p.Gln396Ter)
NM_005901.6(SMAD2):c.1188G>A (p.Gln396=)
NM_005901.6(SMAD2):c.1217A>G (p.Tyr406Cys) rs2144287574
NM_005901.6(SMAD2):c.1220A>C (p.Gln407Pro) rs2144287547
NM_005901.6(SMAD2):c.1220A>G (p.Gln407Arg)
NM_005901.6(SMAD2):c.1234T>C (p.Cys412Arg)
NM_005901.6(SMAD2):c.1262G>A (p.Gly421Glu)
NM_005901.6(SMAD2):c.126G>T (p.Glu42Asp)
NM_005901.6(SMAD2):c.1279C>T (p.Arg427Ter)
NM_005901.6(SMAD2):c.1280+12A>G
NM_005901.6(SMAD2):c.1280+9T>C
NM_005901.6(SMAD2):c.1281-10T>G
NM_005901.6(SMAD2):c.1281-11C>A rs781677330
NM_005901.6(SMAD2):c.1281-14A>G rs189656534
NM_005901.6(SMAD2):c.1281-16G>A
NM_005901.6(SMAD2):c.1281-317G>A rs115472695
NM_005901.6(SMAD2):c.1285C>G (p.Gln429Glu)
NM_005901.6(SMAD2):c.1287G>A (p.Gln429=)
NM_005901.6(SMAD2):c.1289C>T (p.Thr430Met)
NM_005901.6(SMAD2):c.1290G>A (p.Thr430=)
NM_005901.6(SMAD2):c.1294A>C (p.Thr432Pro) rs2144277057
NM_005901.6(SMAD2):c.1294A>G (p.Thr432Ala)
NM_005901.6(SMAD2):c.1297A>C (p.Ser433Arg)
NM_005901.6(SMAD2):c.1297A>G (p.Ser433Gly)
NM_005901.6(SMAD2):c.129A>G (p.Lys43=)
NM_005901.6(SMAD2):c.12C>G (p.Ile4Met)
NM_005901.6(SMAD2):c.1303C>T (p.Pro435Ser)
NM_005901.6(SMAD2):c.1308C>T (p.Cys436=)
NM_005901.6(SMAD2):c.1318C>T (p.Leu440Phe)
NM_005901.6(SMAD2):c.1322A>C (p.His441Pro) rs2144276748
NM_005901.6(SMAD2):c.1325T>G (p.Leu442Arg)
NM_005901.6(SMAD2):c.1346T>C (p.Leu449Ser) rs2144276501
NM_005901.6(SMAD2):c.1348G>A (p.Asp450Asn) rs2144276481
NM_005901.6(SMAD2):c.1360_1364del (p.Thr454fs) rs2144276349
NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg) rs2144276285
NM_005901.6(SMAD2):c.1374C>A (p.Ser458=)
NM_005901.6(SMAD2):c.1376C>T (p.Pro459Leu)
NM_005901.6(SMAD2):c.1376del (p.Pro459fs)
NM_005901.6(SMAD2):c.1377T>C (p.Pro459=)
NM_005901.6(SMAD2):c.1378T>A (p.Ser460Thr) rs2144276177
NM_005901.6(SMAD2):c.1380A>G (p.Ser460=)
NM_005901.6(SMAD2):c.1383G>T (p.Val461=)
NM_005901.6(SMAD2):c.1384C>T (p.Arg462Cys) rs2144276135
NM_005901.6(SMAD2):c.1387del (p.Cys463fs) rs2144276111
NM_005901.6(SMAD2):c.145G>A (p.Val49Met)
NM_005901.6(SMAD2):c.150G>A (p.Lys50=)
NM_005901.6(SMAD2):c.153G>A (p.Lys51=)
NM_005901.6(SMAD2):c.156A>G (p.Leu52=)
NM_005901.6(SMAD2):c.168A>G (p.Gly56=)
NM_005901.6(SMAD2):c.173T>A (p.Leu58Ter) rs1131691755
NM_005901.6(SMAD2):c.189del (p.Ala64fs) rs2144474365
NM_005901.6(SMAD2):c.212A>C (p.Asn71Thr)
NM_005901.6(SMAD2):c.219A>G (p.Lys73=)
NM_005901.6(SMAD2):c.227C>A (p.Thr76Asn)
NM_005901.6(SMAD2):c.233C>A (p.Pro78Gln)
NM_005901.6(SMAD2):c.236+19del
NM_005901.6(SMAD2):c.236+20A>G
NM_005901.6(SMAD2):c.236+3A>G
NM_005901.6(SMAD2):c.236+4A>G rs2033445585
NM_005901.6(SMAD2):c.237-2A>G
NM_005901.6(SMAD2):c.242G>C (p.Cys81Ser)
NM_005901.6(SMAD2):c.244T>C (p.Ser82Pro)
NM_005901.6(SMAD2):c.260T>A (p.Leu87Gln)
NM_005901.6(SMAD2):c.26C>T (p.Pro9Leu)
NM_005901.6(SMAD2):c.271A>G (p.Asn91Asp) rs750419429
NM_005901.6(SMAD2):c.27G>A (p.Pro9=) rs546743584
NM_005901.6(SMAD2):c.283C>G (p.Gln95Glu)
NM_005901.6(SMAD2):c.320A>G (p.Gln107Arg)
NM_005901.6(SMAD2):c.323C>G (p.Thr108Ser) rs752221087
NM_005901.6(SMAD2):c.327-11C>G rs1170622045
NM_005901.6(SMAD2):c.327-11C>T
NM_005901.6(SMAD2):c.327-15C>T rs752452014
NM_005901.6(SMAD2):c.327-39del rs34501809
NM_005901.6(SMAD2):c.327-40_327-39del rs34501809
NM_005901.6(SMAD2):c.327-4A>G
NM_005901.6(SMAD2):c.327-56dup rs34501809
NM_005901.6(SMAD2):c.327-5A>G
NM_005901.6(SMAD2):c.327-8C>G
NM_005901.6(SMAD2):c.329C>T (p.Ser110Phe)
NM_005901.6(SMAD2):c.337G>A (p.Gly113Ser)
NM_005901.6(SMAD2):c.341G>A (p.Arg114His)
NM_005901.6(SMAD2):c.351A>C (p.Val117=)
NM_005901.6(SMAD2):c.358C>T (p.Arg120Ter)
NM_005901.6(SMAD2):c.359G>A (p.Arg120Gln)
NM_005901.6(SMAD2):c.372A>C (p.Pro124=)
NM_005901.6(SMAD2):c.381A>G (p.Ile127Met)
NM_005901.6(SMAD2):c.391T>C (p.Leu131=)
NM_005901.6(SMAD2):c.392T>A (p.Leu131Ter)
NM_005901.6(SMAD2):c.393A>G (p.Leu131=)
NM_005901.6(SMAD2):c.394T>A (p.Trp132Arg)
NM_005901.6(SMAD2):c.399C>G (p.Arg133=)
NM_005901.6(SMAD2):c.414C>T (p.His138=)
NM_005901.6(SMAD2):c.418CAT[1] (p.His141del)
NM_005901.6(SMAD2):c.420T>C (p.His140=)
NM_005901.6(SMAD2):c.437T>C (p.Ile146Thr)
NM_005901.6(SMAD2):c.438T>G (p.Ile146Met)
NM_005901.6(SMAD2):c.43C>T (p.Leu15=) rs2144475251
NM_005901.6(SMAD2):c.447C>G (p.Cys149Trp)
NM_005901.6(SMAD2):c.447C>T (p.Cys149=)
NM_005901.6(SMAD2):c.448G>A (p.Glu150Lys) rs200841904
NM_005901.6(SMAD2):c.453T>A (p.Tyr151Ter)
NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter) rs1064793873
NM_005901.6(SMAD2):c.480A>G (p.Val160=)
NM_005901.6(SMAD2):c.489C>A (p.Asn163Lys)
NM_005901.6(SMAD2):c.489C>T (p.Asn163=) rs762181260
NM_005901.6(SMAD2):c.499T>C (p.Tyr167His)
NM_005901.6(SMAD2):c.500A>G (p.Tyr167Cys)
NM_005901.6(SMAD2):c.505A>C (p.Arg169=)
NM_005901.6(SMAD2):c.516A>G (p.Thr172=)
NM_005901.6(SMAD2):c.520+15A>G
NM_005901.6(SMAD2):c.520+16G>A rs2031779809
NM_005901.6(SMAD2):c.521-12G>A
NM_005901.6(SMAD2):c.521-12G>C
NM_005901.6(SMAD2):c.521-14T>G
NM_005901.6(SMAD2):c.521-15_521-13dup
NM_005901.6(SMAD2):c.521-16del rs143256118
NM_005901.6(SMAD2):c.521-4T>G
NM_005901.6(SMAD2):c.527C>G (p.Pro176Arg)
NM_005901.6(SMAD2):c.531A>G (p.Pro177=)
NM_005901.6(SMAD2):c.53G>A (p.Trp18Ter) rs1555658568
NM_005901.6(SMAD2):c.540G>A (p.Val180=)
NM_005901.6(SMAD2):c.544C>T (p.Arg182Ter) rs370352616
NM_005901.6(SMAD2):c.549C>T (p.His183=)
NM_005901.6(SMAD2):c.549_550insCC (p.Thr184fs) rs1598802389
NM_005901.6(SMAD2):c.552C>T (p.Thr184=)
NM_005901.6(SMAD2):c.557T>A (p.Ile186Asn)
NM_005901.6(SMAD2):c.55A>G (p.Lys19Glu) rs2144475139
NM_005901.6(SMAD2):c.573G>A (p.Pro191=)
NM_005901.6(SMAD2):c.581A>G (p.Asp194Gly)
NM_005901.6(SMAD2):c.585C>T (p.Asp195=) rs1168815544
NM_005901.6(SMAD2):c.587A>G (p.Tyr196Cys) rs2031718183
NM_005901.6(SMAD2):c.587_595del (p.Tyr196_His198del)
NM_005901.6(SMAD2):c.591T>A (p.Thr197=)
NM_005901.6(SMAD2):c.5C>T (p.Ser2Leu)
NM_005901.6(SMAD2):c.600_605dup (p.Pro201_Glu202insAspPro)
NM_005901.6(SMAD2):c.603A>T (p.Pro201=)
NM_005901.6(SMAD2):c.609C>T (p.Asn203=)
NM_005901.6(SMAD2):c.619C>G (p.Pro207Ala)
NM_005901.6(SMAD2):c.625G>A (p.Gly209Arg)
NM_005901.6(SMAD2):c.626G>C (p.Gly209Ala)
NM_005901.6(SMAD2):c.63A>G (p.Ser21=)
NM_005901.6(SMAD2):c.648T>C (p.Tyr216=)
NM_005901.6(SMAD2):c.649A>G (p.Ile217Val)
NM_005901.6(SMAD2):c.655+10C>T
NM_005901.6(SMAD2):c.655+12T>C
NM_005901.6(SMAD2):c.655+1G>C
NM_005901.6(SMAD2):c.656-13dup
NM_005901.6(SMAD2):c.656-9C>T
NM_005901.6(SMAD2):c.657A>G (p.Glu219=)
NM_005901.6(SMAD2):c.660G>A (p.Thr220=)
NM_005901.6(SMAD2):c.660G>T (p.Thr220=) rs756278803
NM_005901.6(SMAD2):c.687T>C (p.Asp229=)
NM_005901.6(SMAD2):c.6G>A (p.Ser2=)
NM_005901.6(SMAD2):c.6G>T (p.Ser2=) rs1244575923
NM_005901.6(SMAD2):c.708G>T (p.Gln236His)
NM_005901.6(SMAD2):c.715C>G (p.Gln239Glu)
NM_005901.6(SMAD2):c.727A>G (p.Thr243Ala) rs2144362208
NM_005901.6(SMAD2):c.730+10A>G rs1024741463
NM_005901.6(SMAD2):c.730+10del rs149135973
NM_005901.6(SMAD2):c.730+16T>G
NM_005901.6(SMAD2):c.730+3dup rs149135973
NM_005901.6(SMAD2):c.731-184C>G rs35710478
NM_005901.6(SMAD2):c.732C>T (p.Gly244=)
NM_005901.6(SMAD2):c.734C>G (p.Ser245Cys) rs2144318948
NM_005901.6(SMAD2):c.737C>T (p.Pro246Leu)
NM_005901.6(SMAD2):c.748T>A (p.Ser250Thr)
NM_005901.6(SMAD2):c.74C>G (p.Ser25Cys)
NM_005901.6(SMAD2):c.753T>G (p.Pro251=)
NM_005901.6(SMAD2):c.757A>G (p.Thr253Ala) rs2144318911
NM_005901.6(SMAD2):c.765C>T (p.Ser255=)
NM_005901.6(SMAD2):c.784+10A>C
NM_005901.6(SMAD2):c.784+12A>G
NM_005901.6(SMAD2):c.784+14A>G
NM_005901.6(SMAD2):c.784+15T>G
NM_005901.6(SMAD2):c.784+16G>A
NM_005901.6(SMAD2):c.784+19C>T
NM_005901.6(SMAD2):c.784+6T>G rs2144318809
NM_005901.6(SMAD2):c.784+8G>A
NM_005901.6(SMAD2):c.785-10dup rs1319844847
NM_005901.6(SMAD2):c.785-11T>C
NM_005901.6(SMAD2):c.785-17A>C rs372218727
NM_005901.6(SMAD2):c.785-18T>A
NM_005901.6(SMAD2):c.785-18dup rs755626653
NM_005901.6(SMAD2):c.785-8T>C rs781487507
NM_005901.6(SMAD2):c.785-8T>G rs781487507
NM_005901.6(SMAD2):c.790C>T (p.Gln264Ter) rs1914769460
NM_005901.6(SMAD2):c.812C>T (p.Pro271Leu)
NM_005901.6(SMAD2):c.815C>T (p.Ala272Val)
NM_005901.6(SMAD2):c.816A>G (p.Ala272=)
NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys) rs367537998
NM_005901.6(SMAD2):c.827C>T (p.Ser276Leu)
NM_005901.6(SMAD2):c.828G>C (p.Ser276=)
NM_005901.6(SMAD2):c.833C>T (p.Ala278Val) rs2144300734
NM_005901.6(SMAD2):c.834A>G (p.Ala278=) rs2144300724
NM_005901.6(SMAD2):c.835T>C (p.Tyr279His)
NM_005901.6(SMAD2):c.867C>G (p.Thr289=)
NM_005901.6(SMAD2):c.873T>C (p.His291=)
NM_005901.6(SMAD2):c.87C>T (p.Gly29=)
NM_005901.6(SMAD2):c.882G>A (p.Gln294=)
NM_005901.6(SMAD2):c.885C>T (p.Pro295=)
NM_005901.6(SMAD2):c.903C>T (p.Gly301=) rs933607615
NM_005901.6(SMAD2):c.908C>T (p.Thr303Ile) rs2144300077
NM_005901.6(SMAD2):c.912C>T (p.Asp304=)
NM_005901.6(SMAD2):c.918A>C (p.Ser306=)
NM_005901.6(SMAD2):c.919A>G (p.Asn307Asp)
NM_005901.6(SMAD2):c.941G>A (p.Gly314Asp) rs2144299769
NM_005901.6(SMAD2):c.953A>G (p.Asn318Ser)
NM_005901.6(SMAD2):c.961C>T (p.Arg321Ter)
NM_005901.6(SMAD2):c.962G>A (p.Arg321Gln)
NM_005901.6(SMAD2):c.967G>A (p.Ala323Thr)
NM_005901.6(SMAD2):c.972G>T (p.Thr324=)
NM_005901.6(SMAD2):c.985A>G (p.Arg329Gly) rs2144299416
NM_005901.6(SMAD2):c.990G>A (p.Arg330=)
NM_005901.6(SMAD2):c.994A>G (p.Ile332Val)
NM_005901.6(SMAD2):c.995T>C (p.Ile332Thr) rs1555645561
NM_005901.6(SMAD2):c.997+1G>A rs367537999
NM_005901.6(SMAD2):c.998-14G>T
NM_005901.6(SMAD2):c.998-19C>G
NM_005901.6(SMAD2):c.998-9T>C
NM_005901.6(SMAD2):c.999A>G (p.Gly333=)

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