ClinVar Miner

List of variants in gene SMAD4 studied for carcinoma

Included ClinVar conditions (243):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_005359.6(SMAD4):c.*202A>G rs765823244 0.00064
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694 0.00002
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) rs147621330 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val) rs1064794204 0.00001
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) rs542392980 0.00001
NM_005359.6(SMAD4):c.566G>A (p.Arg189His) rs759288477 0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_005359.6(SMAD4):c.70A>G (p.Met24Val) rs876659391 0.00001
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe) rs1229812463 0.00001
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) rs730881953 0.00001
NM_005359.6(SMAD4):c.-69G>A rs772186355
NM_005359.6(SMAD4):c.1072G>T (p.Gly358Ter) rs121912576
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1082G>C (p.Arg361Pro) rs377767347
NM_005359.6(SMAD4):c.1125C>T (p.Ala375=) rs1060504023
NM_005359.6(SMAD4):c.1156G>A (p.Gly386Ser) rs1057519962
NM_005359.6(SMAD4):c.1156G>T (p.Gly386Cys) rs1057519962
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005359.6(SMAD4):c.1157G>C (p.Gly386Ala) rs121912580
NM_005359.6(SMAD4):c.1157G>T (p.Gly386Val) rs121912580
NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter) rs121912577
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu) rs1568211184
NM_005359.6(SMAD4):c.1477G>C (p.Asp493His) rs121912578
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1543A>T (p.Arg515Ter) rs121912579
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile) rs1910526660
NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val) rs1064793950
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.6(SMAD4):c.530A>C (p.His177Pro) rs1568205026
NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg) rs1568206043
NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter) rs2144427253
NM_005359.6(SMAD4):c.908C>A (p.Pro303His) rs2144433151

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.