List of variants reported as benign for developmental defect during embryogenesis by All of Us Research Program, National Institutes of Health

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_000090.4(COL3A1):c.4059T>G (p.His1353Gln)	rs1516446	0.99509
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)	rs1800255	0.21080
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=)	rs7579903	0.15955
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=)	rs41272837	0.01840
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=)	rs80302667	0.01481
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)	rs35759441	0.00430
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val)	rs2271683	0.00158
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=)	rs184402915	0.00029
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)	rs111567071	0.00018
NM_000090.4(COL3A1):c.1150-13T>C	rs201839712	0.00006
NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=)	rs749357239	0.00004
NM_000090.4(COL3A1):c.2355C>G (p.Pro785=)	rs148901664

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.