ClinVar Miner

Variants in gene MTRR 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
835 59 0 16 17 1 1 35

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 3 1 0 0 0 0
likely pathogenic 3 0 0 0 0 0 0
uncertain significance 1 0 0 17 0 0 0
likely benign 0 0 17 0 13 0 0
benign 0 0 0 13 0 1 1
drug response 0 0 0 0 1 0 1
risk factor 0 0 0 0 1 1 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_002454.3(MTRR):c.*151A>G rs112465197 0.01706
NM_002454.3(MTRR):c.*49A>G rs142538539 0.01601
NM_002454.3(MTRR):c.*167A>G rs115253331 0.01048
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile) rs114259126 0.00366
NM_002454.3(MTRR):c.876C>T (p.Thr292=) rs144724549 0.00341
NM_002454.3(MTRR):c.210C>G (p.Arg70=) rs41282641 0.00303
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799 0.00196
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_002454.3(MTRR):c.177C>G (p.Thr59=) rs142098262 0.00147
NM_002454.3(MTRR):c.144C>T (p.Thr48=) rs138612190 0.00120
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_002454.3(MTRR):c.446C>T (p.Ala149Val) rs142714881 0.00077
NM_002454.3(MTRR):c.540G>A (p.Val180=) rs149037732 0.00046
NM_002454.3(MTRR):c.906T>C (p.Asn302=) rs144729918 0.00025
NM_002454.3(MTRR):c.1020C>T (p.Cys340=) rs201348649 0.00010
NM_002454.3(MTRR):c.1677-2dup rs747255318 0.00009
NM_002454.3(MTRR):c.21A>G (p.Leu7=) rs114427781 0.00007
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys) rs202110383 0.00005
NM_002454.3(MTRR):c.27T>C (p.Ala9=) rs114748706 0.00004
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002454.3(MTRR):c.1086G>A (p.Ala362=) rs750381895 0.00001
NM_002454.3(MTRR):c.1769+8A>G rs892239997 0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) rs1293600145 0.00001
NM_002454.3(MTRR):c.1890G>A (p.Gln630=) rs9282786 0.00001
NM_002454.3(MTRR):c.399A>G (p.Val133=) rs560392566 0.00001
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) rs796052001
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) rs768980918
NM_002454.3(MTRR):c.1875G>T (p.Val625=) rs12347
NM_002454.3(MTRR):c.1998A>G (p.Gln666=) rs767507060
NM_002454.3(MTRR):c.99A>C (p.Ala33=) rs1747850617

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.