ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869 0.00009
NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp) rs187063864 0.00005
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val) rs786200938 0.00004
NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp) rs121917817 0.00002
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363 0.00001
NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro) rs375845310 0.00001
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) rs753594601 0.00001
NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter) rs1481659687 0.00001
NM_080605.4(B3GALT6):c.353del (p.Asp118fs) rs750088530 0.00001
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) rs1314046622 0.00001
NM_001128225.3(SLC39A13):c.483_491del (p.Phe162_Ala164del)
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg) rs1370937766
NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro) rs121917818
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.