ClinVar Miner

Variants in gene OAT 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
192 21 1 10 8 0 5 23

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 9 2 0 0
likely pathogenic 9 1 3 1 0
uncertain significance 2 3 0 7 1
likely benign 0 1 7 0 1
benign 0 0 1 1 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000274.3(OAT):c.1172G>A (p.Trp391Ter) rs386833596
NM_000274.3(OAT):c.123T>C (p.Asp41=) rs376051303
NM_000274.3(OAT):c.1250C>T (p.Pro417Leu) rs121965044
NM_000274.3(OAT):c.1311G>T (p.Leu437Phe) rs1800456
NM_000274.3(OAT):c.272G>A (p.Gly91Glu) rs386833603
NM_000274.3(OAT):c.639C>T (p.Pro213=) rs773314783
NM_000274.3(OAT):c.698A>G (p.Gln233Arg) rs386833615
NM_000274.3(OAT):c.722C>T (p.Pro241Leu) rs121965051
NM_000274.3(OAT):c.736C>T (p.Leu246=) rs146882296
NM_000274.3(OAT):c.772-1G>A rs770390524
NM_000274.3(OAT):c.800C>T (p.Thr267Ile) rs386833618
NM_000274.3(OAT):c.952G>A (p.Glu318Lys) rs386833621
NM_000274.3(OAT):c.969C>T (p.Tyr323=) rs138895801
NM_000274.3(OAT):c.991C>T (p.Arg331Ter) rs386833623
NM_000274.4(OAT):c.1015-5C>T rs764963374
NM_000274.4(OAT):c.1015-6A>G rs561800688
NM_000274.4(OAT):c.107G>C (p.Gly36Ala) rs140786333
NM_000274.4(OAT):c.1245G>A (p.Ala415=)
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.425-4_429del rs386833609
NM_000274.4(OAT):c.521-6T>G rs369018496
NM_001171814.1(OAT):c.-215-3048del rs386833599
NM_001322971.2(OAT):c.200-3038G>T rs121965039

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