List of variants in gene SMAD4 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)	rs138800446	0.00014
NM_005359.6(SMAD4):c.466A>T (p.Met156Leu)	rs534355764	0.00011
NM_005359.6(SMAD4):c.956-3T>C	rs748283001	0.00003
NM_005359.6(SMAD4):c.-3C>G	rs886053892	0.00001
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val)	rs747360831	0.00001
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)	rs1064794204	0.00001
NM_005359.6(SMAD4):c.249+7C>T	rs754207663	0.00001
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser)	rs281875323	0.00001
NM_005359.6(SMAD4):c.457C>T (p.Pro153Ser)	rs751763157	0.00001
NM_005359.6(SMAD4):c.470T>C (p.Met157Thr)	rs756675590	0.00001
NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu)	rs770798845	0.00001
NM_005359.6(SMAD4):c.698A>G (p.His233Arg)	rs1555685910	0.00001
NM_005359.6(SMAD4):c.956-4A>G	rs1295343500	0.00001
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val)	rs1060500741
NM_005359.6(SMAD4):c.1140-10del	rs763877987
NM_005359.6(SMAD4):c.1140-3A>C	rs956212866
NM_005359.6(SMAD4):c.1447+9G>A	rs878854766
NM_005359.6(SMAD4):c.1591C>T (p.Arg531Trp)	rs766833269
NM_005359.6(SMAD4):c.31A>T (p.Thr11Ser)	rs587780791
NM_005359.6(SMAD4):c.457C>G (p.Pro153Ala)	rs751763157
NM_005359.6(SMAD4):c.47G>C (p.Cys16Ser)	rs1555684993
NM_005359.6(SMAD4):c.788-6T>C	rs1909898384
NM_005359.6(SMAD4):c.829A>G (p.Thr277Ala)	rs1555685960
NM_005359.6(SMAD4):c.955+6T>C

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.