ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome progeroid type

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) rs11537644
NM_007255.3(B4GALT7):c.297G>T (p.Val99=) rs114036939
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817
NM_007255.3(B4GALT7):c.413+60C>G rs28499092
NM_007255.3(B4GALT7):c.777T>C (p.His259=) rs729459
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) rs1553151151
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys) rs777778007
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) rs142820961
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725

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.