List of variants in gene SMAD3 reported as likely benign by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)	rs150994304	0.00016
NM_005902.4(SMAD3):c.714C>T (p.Tyr238=)	rs149443777	0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)	rs139616052	0.00009
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.738G>A (p.Glu246=)	rs771037017	0.00002
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.633G>A (p.Pro211=)	rs776009102	0.00001
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.666G>A (p.Gln222=)	rs2140313814

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.