List of variants studied for Ehlers-Danlos syndrome, vascular type by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.1509+2T>C	rs1553508039	0.00003
NM_000090.4(COL3A1):c.1173del (p.Pro392fs)	rs1553507863
NM_000090.4(COL3A1):c.1249G>A (p.Gly417Arg)	rs587779637
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)	rs587779692
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser)	rs587779633
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter)	rs1057518075
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)	rs121912923
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp)	rs587779691
NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp)	rs553203474
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu)	rs1576468562
NM_000090.4(COL3A1):c.2681G>C (p.Gly894Ala)	rs587779589
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)	rs587779646
NM_000090.4(COL3A1):c.570del (p.Pro191fs)
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)	rs587779533
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys)	rs587779705
NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter)	rs1057521106
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	rs587779650

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.