ClinVar Miner

Variants in gene TBCD with conflicting interpretations

See also:
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
1074 52 0 17 11 0 9 36

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 5 3 0 0
likely pathogenic 5 0 6 0 0
uncertain significance 3 6 0 11 1
likely benign 0 0 11 0 12
benign 0 0 1 12 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005993.5(TBCD):c.3554T>C (p.Leu1185Pro) rs2292969 0.00603
NM_005993.5(TBCD):c.2852+3A>G rs187081192 0.00308
NM_005993.5(TBCD):c.3518G>A (p.Arg1173His) rs188081246 0.00243
NM_005993.5(TBCD):c.1467A>G (p.Ala489=) rs139629551 0.00217
NM_005993.5(TBCD):c.3537C>T (p.Gly1179=) rs180720643 0.00156
NM_005993.5(TBCD):c.2566A>G (p.Met856Val) rs202149526 0.00151
NM_005993.5(TBCD):c.1044C>T (p.Asp348=) rs200560397 0.00126
NM_005993.5(TBCD):c.1534-4G>A rs116536514 0.00118
NM_005993.5(TBCD):c.3069C>T (p.Ser1023=) rs112074039 0.00113
NM_005993.5(TBCD):c.1047C>T (p.Asp349=) rs139258497 0.00080
NM_005993.5(TBCD):c.1095G>T (p.Leu365=) rs372440113 0.00069
NM_005993.5(TBCD):c.3282-5G>A rs372010263 0.00061
NM_005993.5(TBCD):c.2638A>T (p.Met880Leu) rs199972447 0.00029
NM_005993.5(TBCD):c.541G>C (p.Ala181Pro) rs201980005 0.00020
NM_005993.5(TBCD):c.2368C>T (p.Arg790Trp) rs200557085 0.00014
NM_005993.5(TBCD):c.474C>T (p.Ser158=) rs193221478 0.00012
NM_005993.5(TBCD):c.1254G>A (p.Gly418=) rs367985432 0.00011
NM_005993.5(TBCD):c.2178+5A>G rs371823710 0.00008
NM_005993.5(TBCD):c.2701C>T (p.Arg901Cys) rs778041055 0.00006
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu) rs755177846 0.00005
NM_005993.5(TBCD):c.2609+5G>A rs367596929 0.00004
NM_005993.5(TBCD):c.874C>G (p.Leu292Val) rs375327000 0.00004
NM_005993.5(TBCD):c.3126G>A (p.Pro1042=) rs369672739 0.00002
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys) rs181969865 0.00001
NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu) rs760635077 0.00001
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser) rs772606107 0.00001
NM_005993.5(TBCD):c.337C>T (p.Arg113Ter) rs750717767 0.00001
NM_005993.5(TBCD):c.686T>G (p.Leu229Arg) rs778417127 0.00001
NM_005993.5(TBCD):c.880C>T (p.Arg294Trp) rs1064796675 0.00001
NM_005993.5(TBCD):c.967C>T (p.Arg323Ter) rs773790897 0.00001
NM_005993.4(TBCD):c.1150_1171del rs751754677
NM_005993.5(TBCD):c.1126G>A (p.Val376Met) rs183349235
NM_005993.5(TBCD):c.1739G>A (p.Arg580Gln) rs780523169
NM_005993.5(TBCD):c.230A>G (p.His77Arg) rs1409600874

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