ClinVar Miner

Variants in gene KBTBD13 with conflicting interpretations

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
526 27 0 17 16 0 2 34

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 0 1 0 0
likely pathogenic 0 0 1 1 0
uncertain significance 1 1 0 9 7
likely benign 0 1 9 0 17
benign 0 0 7 17 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001101362.3(KBTBD13):c.1128G>A (p.Thr376=) rs116623596 0.01793
NM_001101362.3(KBTBD13):c.1197C>T (p.Arg399=) rs150830358 0.01081
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406 0.00958
NM_001101362.3(KBTBD13):c.-13C>T rs147079462 0.00829
NM_001101362.3(KBTBD13):c.246G>C (p.Val82=) rs115182478 0.00729
NM_001101362.3(KBTBD13):c.89G>A (p.Gly30Asp) rs138484272 0.00305
NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=) rs199526404 0.00224
NM_001101362.3(KBTBD13):c.214C>T (p.Leu72=) rs550537101 0.00205
NM_001101362.3(KBTBD13):c.188A>T (p.Gln63Leu) rs202004658 0.00175
NM_001101362.3(KBTBD13):c.117C>T (p.Gly39=) rs367684457 0.00105
NM_001101362.3(KBTBD13):c.471C>T (p.Tyr157=) rs550724858 0.00032
NM_001101362.3(KBTBD13):c.769G>C (p.Asp257His) rs568675071 0.00020
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn) rs567309902 0.00019
NM_001101362.3(KBTBD13):c.729C>G (p.Ser243Arg) rs767990371 0.00016
NM_001101362.3(KBTBD13):c.394G>A (p.Gly132Ser) rs373039171 0.00014
NM_001101362.3(KBTBD13):c.283C>A (p.Arg95Ser) rs377071831 0.00011
NM_001101362.3(KBTBD13):c.224A>C (p.Glu75Ala) rs755775428 0.00006
NM_001101362.3(KBTBD13):c.43G>A (p.Gly15Ser) rs779819069 0.00006
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_001101362.3(KBTBD13):c.1184C>T (p.Thr395Met) rs758995387 0.00004
NM_001101362.3(KBTBD13):c.1191G>C (p.Val397=) rs376673920 0.00004
NM_001101362.3(KBTBD13):c.228C>G (p.Asp76Glu) rs777431652 0.00003
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser) rs999785767 0.00002
NM_001101362.3(KBTBD13):c.163G>A (p.Ala55Thr) rs551460635 0.00001
NM_001101362.3(KBTBD13):c.252C>T (p.Cys84=) rs886051334 0.00001
NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=) rs1162054356
NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=) rs760134475
NM_001101362.3(KBTBD13):c.333C>G (p.Asp111Glu) rs188146580
NM_001101362.3(KBTBD13):c.361G>A (p.Val121Met) rs201466173
NM_001101362.3(KBTBD13):c.516C>G (p.Asp172Glu) rs142592180
NM_001101362.3(KBTBD13):c.634_638del (p.Tyr212fs) rs748327666
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001101362.3(KBTBD13):c.751A>G (p.Thr251Ala) rs757250245

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