ClinVar Miner

List of variants in gene B3GALT6 reported as pathogenic for Ehlers-Danlos syndrome, spondylodysplastic type

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val) rs786200938 0.00004
NM_080605.4(B3GALT6):c.353del (p.Asp118fs) rs750088530 0.00001
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) rs1314046622 0.00001
NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp) rs397514722
NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu) rs397514720
NM_080605.4(B3GALT6):c.227del (p.Ile76fs) rs1638539773
NM_080605.4(B3GALT6):c.235A>G (p.Thr79Ala)
NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr) rs969701761
NM_080605.4(B3GALT6):c.3G>A (p.Met1Ile)
NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del) rs786200942
NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu) rs1553151294
NM_080605.4(B3GALT6):c.588del (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp) rs1638566519
NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr) rs397514721

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.