ClinVar Miner

Variants in gene combination CHKB, CHKB-CPT1B 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
149 8 0 5 9 0 3 16

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 2 0 0
uncertain significance 1 2 0 7 2
likely benign 0 0 7 0 5
benign 0 0 2 5 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_005198.4(CHKB):c.1031+3G>C rs751176079
NM_005198.4(CHKB):c.1129C>T (p.Arg377Trp) rs766848672
NM_005198.4(CHKB):c.138G>T (p.Glu46Asp) rs752292240
NM_005198.4(CHKB):c.149A>G (p.Tyr50Cys) rs138205828
NM_005198.4(CHKB):c.216C>T (p.Tyr72=) rs80067609
NM_005198.4(CHKB):c.249C>T (p.Phe83=) rs180979987
NM_005198.4(CHKB):c.263C>T (p.Pro88Leu) rs146163970
NM_005198.4(CHKB):c.333+10G>T rs86337
NM_005198.4(CHKB):c.457T>C (p.Leu153=) rs146693439
NM_005198.4(CHKB):c.582-13_582-11del rs766816072
NM_005198.4(CHKB):c.670A>C (p.Asn224His) rs149858290
NM_005198.4(CHKB):c.708C>T (p.Val236=) rs141934594
NM_005198.4(CHKB):c.940C>T (p.Arg314Cys) rs200919604
NM_005198.4(CHKB):c.983A>G (p.Gln328Arg) rs141381896
NM_005198.5(CHKB):c.1114-6C>T rs151123092
NM_005198.5(CHKB):c.234C>G (p.Leu78=)

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