ClinVar Miner

Variants in gene ABAT 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 Variants with at least 2 submissions 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 kind of conflict
158 14 0 12 7 0 1 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 uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 7 4
likely benign 0 7 0 12
benign 0 4 12 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_020686.6(ABAT):c.1147C>T (p.Leu383=) rs2229158
NM_020686.6(ABAT):c.1269+4A>C rs183947905
NM_020686.6(ABAT):c.1270-4A>G rs12447235
NM_020686.6(ABAT):c.129G>A (p.Gly43=) rs2228081
NM_020686.6(ABAT):c.1394G>A (p.Gly465Asp) rs1057523345
NM_020686.6(ABAT):c.1452C>T (p.His484=) rs61730647
NM_020686.6(ABAT):c.267C>T (p.Asp89=) rs199666932
NM_020686.6(ABAT):c.309C>T (p.Val103=) rs2229157
NM_020686.6(ABAT):c.30G>A (p.Leu10=) rs34813662
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys) rs77696190
NM_020686.6(ABAT):c.603+3G>A rs41312254
NM_020686.6(ABAT):c.641T>C (p.Met214Thr) rs149271402
NM_020686.6(ABAT):c.645C>A (p.Gly215=) rs1139522
NM_020686.6(ABAT):c.816+7C>A rs376046736
NM_020686.6(ABAT):c.817-6A>G rs140106845
NM_020686.6(ABAT):c.864C>T (p.Ala288=) rs149855547

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