ClinVar Miner

Variants in gene TUBGCP6 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.3382A>C (p.Arg1128=) rs1266725037 0.00264
NM_020461.4(TUBGCP6):c.89G>A (p.Arg30Gln) rs148626062 0.00200
NM_020461.4(TUBGCP6):c.3490G>A (p.Val1164Met) rs9628306 0.00153
NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro) rs138586345 0.00113
NM_020461.4(TUBGCP6):c.1193C>T (p.Ser398Leu) rs142435821 0.00062
NM_020461.4(TUBGCP6):c.1026G>A (p.Pro342=) rs141805017 0.00055
NM_020461.4(TUBGCP6):c.1539C>T (p.Cys513=) rs149982006 0.00051
NM_020461.4(TUBGCP6):c.161C>G (p.Thr54Ser) rs139974572 0.00041
NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu) rs201721812 0.00020
NM_020461.4(TUBGCP6):c.655G>T (p.Val219Leu) rs137934849 0.00019
NM_020461.4(TUBGCP6):c.245T>G (p.Leu82Arg) rs200360214 0.00008
NM_020461.4(TUBGCP6):c.1719C>T (p.Tyr573=) rs201299983 0.00006
NM_020461.4(TUBGCP6):c.1851C>T (p.Ser617=) rs375913178 0.00006
NM_020461.4(TUBGCP6):c.2065+9C>T rs781746721 0.00006
NM_020461.4(TUBGCP6):c.4954+10C>T rs200824422 0.00005
NM_020461.4(TUBGCP6):c.2080G>C (p.Glu694Gln) rs371704034 0.00004
NM_020461.4(TUBGCP6):c.2155-10T>C rs370415059 0.00003
NM_020461.4(TUBGCP6):c.3538C>T (p.Pro1180Ser) rs775925434 0.00003
NM_020461.4(TUBGCP6):c.5169-5C>T rs777828441 0.00002
NM_020461.4(TUBGCP6):c.1066G>A (p.Val356Met) rs773504995 0.00001
NM_020461.4(TUBGCP6):c.3383G>A (p.Arg1128Lys) rs567883079 0.00001
NM_020461.4(TUBGCP6):c.4322C>T (p.Pro1441Leu) rs201730639
NM_020461.4(TUBGCP6):c.5327C>G (p.Ser1776Cys) rs374204240
NM_020461.4(TUBGCP6):c.610G>C (p.Asp204His)

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.