ClinVar Miner

List of variants in gene SMAD3 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile) rs730880216 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.821T>C (p.Leu274Pro) rs863223741 0.00001
NC_000015.10:g.(?_67190393)_(67190556_?)del
NC_000015.9:g.(?_67457213)_(67462962_?)dup
NM_005902.4(SMAD3):c.1009+1G>A rs1963180892
NM_005902.4(SMAD3):c.1010-1G>C rs2140323368
NM_005902.4(SMAD3):c.106A>T (p.Lys36Ter)
NM_005902.4(SMAD3):c.1086_1098dup (p.Thr367fs) rs1555414236
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.1094A>T (p.Gln365Leu) rs1595962708
NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle) rs863223769
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.1139G>A (p.Trp380Ter)
NM_005902.4(SMAD3):c.1154G>C (p.Arg385Thr) rs886038770
NM_005902.4(SMAD3):c.1155-1G>C rs1963331116
NM_005902.4(SMAD3):c.1166_1167del (p.Val389fs) rs1595965925
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn) rs1595965957
NM_005902.4(SMAD3):c.1222G>C (p.Asp408His) rs201263330
NM_005902.4(SMAD3):c.1229_1244del (p.Val410fs) rs1555414495
NM_005902.4(SMAD3):c.1243G>C (p.Gly415Arg) rs886038961
NM_005902.4(SMAD3):c.1247C>T (p.Ser416Phe) rs1963334285
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.1268G>T (p.Ser423Ile)
NM_005902.4(SMAD3):c.206+1G>C rs770098673
NM_005902.4(SMAD3):c.207-1G>C rs1962532975
NM_005902.4(SMAD3):c.209C>A (p.Ser70Tyr) rs2140293635
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln) rs1566991387
NM_005902.4(SMAD3):c.228G>T (p.Gln76His) rs886041046
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.281G>T (p.Trp94Leu) rs1057518977
NM_005902.4(SMAD3):c.304G>T (p.Glu102Ter) rs1962537574
NM_005902.4(SMAD3):c.334_335delinsCT (p.Ala112Leu) rs1595941823
NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del) rs2140294164
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu) rs886039050
NM_005902.4(SMAD3):c.387_388del (p.Arg129fs) rs863223757
NM_005902.4(SMAD3):c.398del (p.Pro133fs) rs1595941909
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005902.4(SMAD3):c.431_432del (p.Thr144fs) rs2140294762
NM_005902.4(SMAD3):c.435_436del (p.Glu145fs)
NM_005902.4(SMAD3):c.445_455del (p.Glu149fs) rs2140294805
NM_005902.4(SMAD3):c.532+1G>C rs2140295070
NM_005902.4(SMAD3):c.533-1G>A rs1350129614
NM_005902.4(SMAD3):c.540del (p.Pro182fs)
NM_005902.4(SMAD3):c.545dup (p.Gly183fs) rs1291288543
NM_005902.4(SMAD3):c.54del (p.Gly17_Trp18insTer) rs1064794789
NM_005902.4(SMAD3):c.594del (p.His198fs) rs2140296876
NM_005902.4(SMAD3):c.607+1G>T rs1060500771
NM_005902.4(SMAD3):c.648del (p.His216fs) rs1555412629
NM_005902.4(SMAD3):c.659-2A>G
NM_005902.4(SMAD3):c.677A>C (p.Tyr226Ser)
NM_005902.4(SMAD3):c.67C>T (p.Gln23Ter)
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.738_741dup (p.Phe248fs) rs1566999423
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.772G>C (p.Asp258His) rs863223738
NM_005902.4(SMAD3):c.772_797delinsT (p.Asp258fs)
NM_005902.4(SMAD3):c.780C>G (p.Phe260Leu) rs1250669634
NM_005902.4(SMAD3):c.788C>G (p.Pro263Arg) rs387906855
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.789del (p.Ser264fs) rs1963050712
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.808_812delinsAGA (p.Cys270fs) rs2140314299
NM_005902.4(SMAD3):c.814G>C (p.Gly272Arg) rs1057524127
NM_005902.4(SMAD3):c.848T>A (p.Val283Glu) rs1566999601
NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly) rs1566999610
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.4(SMAD3):c.871+1G>T rs1595956832
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg) rs730880215
NM_005902.4(SMAD3):c.872-1G>A rs1555413988
NM_005902.4(SMAD3):c.872-2A>G
NM_005902.4(SMAD3):c.872-2_881del
NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter)
NM_005902.4(SMAD3):c.942del (p.Phe314fs) rs863223768
NM_005902.4(SMAD3):c.94G>T (p.Glu32Ter) rs2140188891
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe) rs1320208623

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.