ClinVar Miner

Variants in gene TUBGCP6 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1781 139 0 43 26 0 3 72

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 2 0 0
likely pathogenic 6 0 2 0 0
uncertain significance 2 2 0 24 2
likely benign 0 0 24 0 37
benign 0 0 2 37 0

All variants with conflicting interpretations #

Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.3513G>A (p.Leu1171=) rs61745994 0.02068
NM_020461.4(TUBGCP6):c.3408C>T (p.His1136=) rs17013247 0.02018
NM_020461.4(TUBGCP6):c.4764C>T (p.Pro1588=) rs78122876 0.01126
NM_020461.4(TUBGCP6):c.4728C>T (p.His1576=) rs34562250 0.01049
NM_020461.4(TUBGCP6):c.681C>T (p.Asp227=) rs147321582 0.00981
NM_020461.4(TUBGCP6):c.3307C>T (p.Arg1103Trp) rs61739385 0.00849
NM_020461.4(TUBGCP6):c.5181G>A (p.Thr1727=) rs35231253 0.00736
NM_020461.4(TUBGCP6):c.4821+14C>T rs55985560 0.00692
NM_020461.4(TUBGCP6):c.3092G>C (p.Gly1031Ala) rs115728769 0.00455
NM_020461.4(TUBGCP6):c.1443T>C (p.Ala481=) rs141766585 0.00451
NM_020461.4(TUBGCP6):c.2066-11T>C rs113592725 0.00429
NM_020461.4(TUBGCP6):c.837C>T (p.Asp279=) rs34718948 0.00417
NM_020461.4(TUBGCP6):c.2021C>T (p.Ala674Val) rs35446002 0.00357
NM_020461.4(TUBGCP6):c.1118C>T (p.Pro373Leu) rs34273213 0.00348
NM_020461.4(TUBGCP6):c.3382A>C (p.Arg1128=) rs1266725037 0.00264
NM_020461.4(TUBGCP6):c.2487C>G (p.Val829=) rs139343360 0.00248
NM_020461.4(TUBGCP6):c.4929C>T (p.Asp1643=) rs147939592 0.00234
NM_020461.4(TUBGCP6):c.1612G>A (p.Asp538Asn) rs139934957 0.00230
NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=) rs149152116 0.00206
NM_020461.4(TUBGCP6):c.89G>A (p.Arg30Gln) rs148626062 0.00200
NM_020461.4(TUBGCP6):c.3651T>C (p.His1217=) rs148914897 0.00154
NM_020461.4(TUBGCP6):c.3490G>A (p.Val1164Met) rs9628306 0.00153
NM_020461.4(TUBGCP6):c.4223C>T (p.Ala1408Val) rs142798996 0.00153
NM_020461.4(TUBGCP6):c.3496G>A (p.Asp1166Asn) rs3747943 0.00136
NM_020461.4(TUBGCP6):c.4398C>T (p.Ala1466=) rs142496306 0.00135
NM_020461.4(TUBGCP6):c.2991C>T (p.Ser997=) rs143388326 0.00134
NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro) rs138586345 0.00113
NM_020461.4(TUBGCP6):c.1452G>A (p.Pro484=) rs114942206 0.00107
NM_020461.4(TUBGCP6):c.1291-6C>T rs201449189 0.00091
NM_020461.4(TUBGCP6):c.2574G>C (p.Trp858Cys) rs147989796 0.00084
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.5052C>T (p.Ile1684=) rs139368772 0.00048
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.5113G>A (p.Asp1705Asn) rs202244591 0.00016
NM_020461.4(TUBGCP6):c.3240C>T (p.His1080=) rs145410588 0.00013
NM_020461.4(TUBGCP6):c.1611C>T (p.His537=) rs201235588 0.00012
NM_020461.4(TUBGCP6):c.245T>G (p.Leu82Arg) rs200360214 0.00008
NM_020461.4(TUBGCP6):c.4875C>T (p.Ser1625=) rs373718907 0.00008
NM_020461.4(TUBGCP6):c.5263_5273dup (p.Arg1763fs) rs775659848 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.2066-6A>G rs368765755 0.00003
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.5112del (p.Asp1705fs) rs764772232 0.00002
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.1519C>T (p.Gln507Ter) rs1260456579 0.00001
NM_020461.4(TUBGCP6):c.1833+1G>A rs886041788 0.00001
NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter) rs724159975 0.00001
NM_020461.4(TUBGCP6):c.2221_2222del (p.Arg741fs) rs951221380 0.00001
NM_020461.4(TUBGCP6):c.2361G>A (p.Leu787=) rs541224216 0.00001
NM_020461.4(TUBGCP6):c.3383G>A (p.Arg1128Lys) rs567883079 0.00001
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
NM_020461.4(TUBGCP6):c.1700_1701inv (p.Leu567Ser)
NM_020461.4(TUBGCP6):c.3189C>G (p.Val1063=) rs117613659
NM_020461.4(TUBGCP6):c.3732C>T (p.His1244=) rs140699312
NM_020461.4(TUBGCP6):c.3893dup (p.Gly1299fs) rs760024638
NM_020461.4(TUBGCP6):c.42C>A (p.Ala14=) rs146878404
NM_020461.4(TUBGCP6):c.4317C>A (p.Ser1439=) rs79022493
NM_020461.4(TUBGCP6):c.4317C>T (p.Ser1439=) rs79022493
NM_020461.4(TUBGCP6):c.4322C>T (p.Pro1441Leu) rs201730639
NM_020461.4(TUBGCP6):c.4326C>T (p.Pro1442=) rs76633938
NM_020461.4(TUBGCP6):c.5327C>G (p.Ser1776Cys) rs374204240
NM_020461.4(TUBGCP6):c.610G>C (p.Asp204His)

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