ClinVar Miner

List of variants in gene B3GALT6 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244 0.00065
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725 0.00050
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln) rs376811907 0.00045
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530 0.00041
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) rs900539403 0.00008
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=) rs370328225 0.00007
NM_080605.4(B3GALT6):c.313G>C (p.Glu105Gln) rs1199531500 0.00004
NM_080605.4(B3GALT6):c.676C>T (p.His226Tyr) rs746174922 0.00004
NM_080605.4(B3GALT6):c.7C>T (p.Leu3=) rs981250392 0.00002
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) rs1314046622 0.00001
NM_080605.4(B3GALT6):c.552C>T (p.Gly184=) rs1256336773 0.00001
NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup) rs1553151150
NM_080605.4(B3GALT6):c.338A>G (p.Gln113Arg) rs1064797105
NM_080605.4(B3GALT6):c.340G>A (p.Ala114Thr)
NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu) rs558454078
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup) rs755700896
NM_080605.4(B3GALT6):c.583G>C (p.Gly195Arg) rs551984021
NM_080605.4(B3GALT6):c.681C>G (p.Tyr227Ter) rs1375562480
NM_080605.4(B3GALT6):c.688_708dup (p.Leu230_Arg236dup) rs1557526692
NM_080605.4(B3GALT6):c.693C>G (p.Ser231Arg) rs1570499154

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.