ClinVar Miner

List of variants in gene SMAD3 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.316A>G (p.Met106Val) rs138550573 0.00099
NM_005902.4(SMAD3):c.607+7C>T rs200998367 0.00036
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_005902.4(SMAD3):c.747C>T (p.His249=) rs139907582 0.00025
NM_005902.4(SMAD3):c.872-19C>G rs74421858 0.00025
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.777C>T (p.Gly259=) rs145414319 0.00013
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=) rs753875974 0.00010
NM_005902.4(SMAD3):c.207-13C>T rs200548744 0.00010
NM_005902.4(SMAD3):c.457C>T (p.Leu153=) rs145380987 0.00010
NM_005902.4(SMAD3):c.1009+7G>A rs772242555 0.00009
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.177C>T (p.Asn59=) rs769153458 0.00005
NM_005902.4(SMAD3):c.354C>T (p.Asp118=) rs752196822 0.00005
NM_005902.4(SMAD3):c.401-7C>T rs774268232 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.608-15T>C rs371614939 0.00004
NM_005902.4(SMAD3):c.723C>T (p.Asn241=) rs144667334 0.00004
NM_005902.4(SMAD3):c.872-12G>C rs768529580 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.1102C>A (p.Arg368=) rs757106110 0.00003
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val) rs1317532064 0.00003
NM_005902.4(SMAD3):c.206+9C>T rs773458425 0.00003
NM_005902.4(SMAD3):c.207-4G>A rs1319147414 0.00003
NM_005902.4(SMAD3):c.333C>T (p.Phe111=) rs762612490 0.00003
NM_005902.4(SMAD3):c.708C>T (p.Ser236=) rs745390727 0.00003
NM_005902.4(SMAD3):c.871+19C>T rs770999871 0.00003
NM_005902.4(SMAD3):c.981C>G (p.His327Gln) rs780274581 0.00003
NM_005902.4(SMAD3):c.102G>T (p.Ala34=) rs748990258 0.00002
NM_005902.4(SMAD3):c.1065G>A (p.Ser355=) rs756181827 0.00002
NM_005902.4(SMAD3):c.1146G>A (p.Ala382=) rs746494089 0.00002
NM_005902.4(SMAD3):c.532+14C>T rs567048156 0.00002
NM_005902.4(SMAD3):c.532+9G>A rs774868030 0.00002
NM_005902.4(SMAD3):c.608-4G>A rs372064378 0.00002
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg) rs755924969 0.00002
NM_005902.4(SMAD3):c.681C>T (p.Cys227=) rs753539358 0.00002
NM_005902.4(SMAD3):c.730G>A (p.Val244Ile) rs773543026 0.00002
NM_005902.4(SMAD3):c.738G>A (p.Glu246=) rs771037017 0.00002
NM_005902.4(SMAD3):c.753G>A (p.Ser251=) rs975704644 0.00002
NM_005902.4(SMAD3):c.897C>T (p.Ile299=) rs773943578 0.00002
NM_005902.4(SMAD3):c.912C>T (p.Phe304=) rs759140708 0.00002
NM_005902.4(SMAD3):c.968G>A (p.Arg323His) rs758586312 0.00002
NM_005902.4(SMAD3):c.999G>A (p.Lys333=) rs781081744 0.00002
NM_005902.4(SMAD3):c.1009+11C>T rs774180178 0.00001
NM_005902.4(SMAD3):c.1010-10T>C rs1179340088 0.00001
NM_005902.4(SMAD3):c.1059C>A (p.Ala353=) rs767649515 0.00001
NM_005902.4(SMAD3):c.153G>A (p.Leu51=) rs1959914848 0.00001
NM_005902.4(SMAD3):c.195C>T (p.Ile65=) rs368462984 0.00001
NM_005902.4(SMAD3):c.207-9T>C rs1194590241 0.00001
NM_005902.4(SMAD3):c.294C>T (p.His98=) rs781320332 0.00001
NM_005902.4(SMAD3):c.303C>T (p.His101=) rs762889441 0.00001
NM_005902.4(SMAD3):c.363C>T (p.Cys121=) rs760286714 0.00001
NM_005902.4(SMAD3):c.381C>T (p.Tyr127=) rs886038971 0.00001
NM_005902.4(SMAD3):c.444C>T (p.Ala148=) rs563100221 0.00001
NM_005902.4(SMAD3):c.450C>T (p.Phe150=) rs755354518 0.00001
NM_005902.4(SMAD3):c.462C>T (p.Asp154=) rs756124653 0.00001
NM_005902.4(SMAD3):c.48G>A (p.Leu16=) rs886039210 0.00001
NM_005902.4(SMAD3):c.498C>T (p.Phe166=) rs1217111697 0.00001
NM_005902.4(SMAD3):c.501C>T (p.Pro167=) rs138395233 0.00001
NM_005902.4(SMAD3):c.532+8C>T rs370879516 0.00001
NM_005902.4(SMAD3):c.567A>C (p.Gly189=) rs1313114326 0.00001
NM_005902.4(SMAD3):c.597C>T (p.Ser199=) rs769225687 0.00001
NM_005902.4(SMAD3):c.603C>T (p.Asp201=) rs774814963 0.00001
NM_005902.4(SMAD3):c.613C>T (p.Pro205Ser) rs150682850 0.00001
NM_005902.4(SMAD3):c.633G>A (p.Pro211=) rs776009102 0.00001
NM_005902.4(SMAD3):c.63C>A (p.Gly21=) rs751526306 0.00001
NM_005902.4(SMAD3):c.648T>C (p.His216=) rs776900159 0.00001
NM_005902.4(SMAD3):c.658+15G>C rs1296574345 0.00001
NM_005902.4(SMAD3):c.729C>T (p.Arg243=) rs569358776 0.00001
NM_005902.4(SMAD3):c.72C>T (p.Asn24=) rs780995229 0.00001
NM_005902.4(SMAD3):c.732C>T (p.Val244=) rs749576770 0.00001
NM_005902.4(SMAD3):c.744C>T (p.Phe248=) rs376023379 0.00001
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442 0.00001
NM_005902.4(SMAD3):c.81G>A (p.Glu27=) rs755882401 0.00001
NM_005902.4(SMAD3):c.822C>T (p.Leu274=) rs984900419 0.00001
NM_005902.4(SMAD3):c.828T>C (p.Asn276=) rs1375211503 0.00001
NM_005902.4(SMAD3):c.957C>T (p.Asn319=) rs1963178399 0.00001
NM_005902.4(SMAD3):c.1002C>A (p.Ile334=) rs748178271
NM_005902.4(SMAD3):c.1002C>T (p.Ile334=)
NM_005902.4(SMAD3):c.1005A>G (p.Pro335=) rs34188464
NM_005902.4(SMAD3):c.1009+12G>A
NM_005902.4(SMAD3):c.1011A>C (p.Gly337=) rs556975942
NM_005902.4(SMAD3):c.1018C>T (p.Leu340=)
NM_005902.4(SMAD3):c.1020G>A (p.Leu340=) rs1567003440
NM_005902.4(SMAD3):c.1035C>T (p.Asn345=)
NM_005902.4(SMAD3):c.1059C>T (p.Ala353=) rs767649515
NM_005902.4(SMAD3):c.1110C>T (p.Cys370=) rs1353016768
NM_005902.4(SMAD3):c.1149G>A (p.Glu383=) rs2140323797
NM_005902.4(SMAD3):c.1154+11G>C
NM_005902.4(SMAD3):c.1154+11G>T rs1474907392
NM_005902.4(SMAD3):c.1154+7T>G rs1595962801
NM_005902.4(SMAD3):c.1154+9T>C rs1567003626
NM_005902.4(SMAD3):c.1179C>T (p.Pro393=) rs2140327732
NM_005902.4(SMAD3):c.117C>G (p.Val39=) rs1595882130
NM_005902.4(SMAD3):c.117C>T (p.Val39=) rs1595882130
NM_005902.4(SMAD3):c.1206G>T (p.Gly402=) rs1963332496
NM_005902.4(SMAD3):c.1236C>A (p.Thr412=)
NM_005902.4(SMAD3):c.123A>G (p.Lys41=)
NM_005902.4(SMAD3):c.1245C>A (p.Gly415=) rs146659831
NM_005902.4(SMAD3):c.1245C>T (p.Gly415=) rs146659831
NM_005902.4(SMAD3):c.126C>A (p.Leu42=)
NM_005902.4(SMAD3):c.126C>G (p.Leu42=) rs1595882137
NM_005902.4(SMAD3):c.135G>A (p.Thr45=)
NM_005902.4(SMAD3):c.138G>A (p.Gly46=) rs1959914440
NM_005902.4(SMAD3):c.147C>T (p.Asp49=) rs1464740111
NM_005902.4(SMAD3):c.153G>T (p.Leu51=) rs1959914848
NM_005902.4(SMAD3):c.192C>T (p.Cys64=)
NM_005902.4(SMAD3):c.206+10C>T rs1476616287
NM_005902.4(SMAD3):c.206+14C>G
NM_005902.4(SMAD3):c.206+17G>A
NM_005902.4(SMAD3):c.206+20G>A
NM_005902.4(SMAD3):c.206+20_206+23del
NM_005902.4(SMAD3):c.206+8C>A rs1183571536
NM_005902.4(SMAD3):c.206+8C>T
NM_005902.4(SMAD3):c.207-16C>A
NM_005902.4(SMAD3):c.207-18C>G
NM_005902.4(SMAD3):c.207-7C>T
NM_005902.4(SMAD3):c.207-8C>G
NM_005902.4(SMAD3):c.219C>A (p.Gly73=)
NM_005902.4(SMAD3):c.222G>C (p.Arg74=)
NM_005902.4(SMAD3):c.228G>A (p.Gln76=) rs886041046
NM_005902.4(SMAD3):c.258C>A (p.Val86=) rs1356079956
NM_005902.4(SMAD3):c.261C>T (p.Ile87=) rs1421383761
NM_005902.4(SMAD3):c.271C>T (p.Leu91=)
NM_005902.4(SMAD3):c.306G>A (p.Glu102=)
NM_005902.4(SMAD3):c.309A>T (p.Leu103=) rs1065080
NM_005902.4(SMAD3):c.321G>A (p.Glu107=) rs1595941776
NM_005902.4(SMAD3):c.330G>A (p.Glu110=) rs1962539268
NM_005902.4(SMAD3):c.342T>C (p.Asn114=)
NM_005902.4(SMAD3):c.348G>A (p.Lys116=)
NM_005902.4(SMAD3):c.393G>A (p.Glu131=)
NM_005902.4(SMAD3):c.401-10C>T rs1243684484
NM_005902.4(SMAD3):c.401-11C>A rs1962548669
NM_005902.4(SMAD3):c.401-13C>G rs2140294678
NM_005902.4(SMAD3):c.401-17_401-16del
NM_005902.4(SMAD3):c.401-4A>G
NM_005902.4(SMAD3):c.401-9C>T
NM_005902.4(SMAD3):c.411T>A (p.Pro137=)
NM_005902.4(SMAD3):c.415T>C (p.Leu139=)
NM_005902.4(SMAD3):c.441G>A (p.Pro147=) rs140275295
NM_005902.4(SMAD3):c.441G>T (p.Pro147=) rs140275295
NM_005902.4(SMAD3):c.468C>T (p.Tyr156=) rs1555412132
NM_005902.4(SMAD3):c.483C>A (p.Pro161=) rs202203039
NM_005902.4(SMAD3):c.495C>T (p.Asn165=) rs374111837
NM_005902.4(SMAD3):c.516C>T (p.Pro172=) rs776144459
NM_005902.4(SMAD3):c.51C>T (p.Gly17=) rs1595882093
NM_005902.4(SMAD3):c.532+13G>A
NM_005902.4(SMAD3):c.532+8C>A rs370879516
NM_005902.4(SMAD3):c.532+9G>T rs774868030
NM_005902.4(SMAD3):c.533-11C>T
NM_005902.4(SMAD3):c.533-20A>G
NM_005902.4(SMAD3):c.533-5C>T
NM_005902.4(SMAD3):c.533-9G>A rs1962601377
NM_005902.4(SMAD3):c.585G>A (p.Gln195=)
NM_005902.4(SMAD3):c.607+11C>G
NM_005902.4(SMAD3):c.607+16T>C
NM_005902.4(SMAD3):c.608-12C>A
NM_005902.4(SMAD3):c.608-17C>A rs2140301047
NM_005902.4(SMAD3):c.608-5C>T
NM_005902.4(SMAD3):c.608-7C>T
NM_005902.4(SMAD3):c.608-7del rs1595947013
NM_005902.4(SMAD3):c.60G>A (p.Lys20=) rs1595882103
NM_005902.4(SMAD3):c.63C>G (p.Gly21=) rs751526306
NM_005902.4(SMAD3):c.63C>T (p.Gly21=)
NM_005902.4(SMAD3):c.651T>C (p.Asn217=) rs1962722662
NM_005902.4(SMAD3):c.658+17G>A
NM_005902.4(SMAD3):c.659-12del
NM_005902.4(SMAD3):c.666G>A (p.Gln222=) rs2140313814
NM_005902.4(SMAD3):c.711C>T (p.Tyr237=) rs2140313946
NM_005902.4(SMAD3):c.741A>G (p.Thr247=)
NM_005902.4(SMAD3):c.750C>T (p.Ala250=) rs771854466
NM_005902.4(SMAD3):c.756G>A (p.Gln252=) rs1278345256
NM_005902.4(SMAD3):c.759A>G (p.Pro253=)
NM_005902.4(SMAD3):c.762C>A (p.Ser254=) rs1963049270
NM_005902.4(SMAD3):c.804C>T (p.Arg268=)
NM_005902.4(SMAD3):c.817C>T (p.Leu273=)
NM_005902.4(SMAD3):c.871+10G>A
NM_005902.4(SMAD3):c.871+20C>G
NM_005902.4(SMAD3):c.872-12G>A
NM_005902.4(SMAD3):c.872-14C>T
NM_005902.4(SMAD3):c.872-9T>C
NM_005902.4(SMAD3):c.936T>G (p.Ala312=) rs2140319998
NM_005902.4(SMAD3):c.969C>G (p.Arg323=) rs2140320092
NM_005902.4(SMAD3):c.987C>A (p.Ala329=) rs2140320162
NM_005902.4(SMAD3):c.987C>G (p.Ala329=) rs2140320162

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.