ClinVar Miner

Variants in gene ACE 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
434 72 0 29 8 2 3 40

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 drug response risk factor
pathogenic 0 5 2 0 1 0 1
likely pathogenic 5 0 1 0 0 0 0
uncertain significance 2 1 0 8 0 1 0
likely benign 0 0 8 0 24 0 0
benign 1 0 0 24 0 0 1
drug response 0 0 1 0 0 0 0
risk factor 1 0 0 0 1 0 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362 0.51177
NM_000789.4(ACE):c.1119-8C>T rs114861086 0.00991
NM_000789.4(ACE):c.1060G>A (p.Gly354Arg) rs56394458 0.00732
NM_000789.4(ACE):c.2382G>A (p.Ala794=) rs61738817 0.00669
NM_000789.4(ACE):c.3836G>A (p.Arg1279Gln) rs4980 0.00541
NM_000789.4(ACE):c.1038G>C (p.Ser346=) rs34680431 0.00493
NM_000789.4(ACE):c.2979C>T (p.Ile993=) rs75067113 0.00452
NM_000789.4(ACE):c.2747C>T (p.Thr916Met) rs3730043 0.00420
NM_000789.4(ACE):c.1681C>T (p.Arg561Trp) rs4314 0.00316
NM_000789.4(ACE):c.3304C>A (p.Pro1102Thr) rs145349565 0.00302
NM_000789.4(ACE):c.209C>T (p.Ala70Val) rs372565955 0.00152
NM_000789.4(ACE):c.3801C>T (p.Ile1267=) rs144242912 0.00150
NM_000789.4(ACE):c.600G>A (p.Leu200=) rs4299 0.00150
NM_000789.4(ACE):c.945+16A>G rs201274031 0.00142
NM_000789.4(ACE):c.3489C>T (p.Ala1163=) rs4979 0.00130
NM_000789.4(ACE):c.1979C>G (p.Ser660Cys) rs147429960 0.00098
NM_000789.4(ACE):c.45G>C (p.Pro15=) rs1110991 0.00082
NM_000789.4(ACE):c.3363T>C (p.Ser1121=) rs200201337 0.00037
NM_000789.4(ACE):c.177G>A (p.Gln59=) rs147912715 0.00034
NM_000789.4(ACE):c.3691+10C>T rs556274739 0.00030
NM_000789.4(ACE):c.3656T>C (p.Leu1219Pro) rs140941300 0.00025
NM_000789.4(ACE):c.477C>T (p.Pro159=) rs201285321 0.00011
NM_000789.4(ACE):c.1020C>T (p.Pro340=) rs3730026 0.00009
NM_000789.4(ACE):c.140A>G (p.Gln47Arg) rs767353320 0.00007
NM_000789.4(ACE):c.2858G>A (p.Arg953Gln) rs143507892 0.00006
NM_000789.4(ACE):c.1227T>C (p.Arg409=) rs373568007 0.00004
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter) rs367797185 0.00004
NM_000789.4(ACE):c.1486C>T (p.Arg496Ter) rs397514688 0.00003
NM_000789.4(ACE):c.3226G>T (p.Val1076Leu) rs534480370 0.00003
NM_000789.4(ACE):c.59_69del (p.Leu20fs) rs752411292 0.00001
NM_000789.4(ACE):c.960G>A (p.Thr320=) rs547724686 0.00001
NM_000789.4(ACE):c.2518C>A (p.Arg840=) rs3730036
NM_000789.4(ACE):c.2952G>A (p.Val984=) rs3730044
NM_000789.4(ACE):c.3521del (p.Gly1174fs) rs754265941
NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del) rs900084108
NM_000789.4(ACE):c.474C>T (p.Leu158=)
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del) rs983649759

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