ClinVar Miner

Variants in gene SLC19A3 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
156 17 0 14 12 1 1 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 association
pathogenic 0 1 0 0 0 0
likely pathogenic 1 0 0 0 0 0
uncertain significance 1 1 0 11 5 1
likely benign 0 0 10 0 13 0
benign 0 0 4 13 0 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_025243.4(SLC19A3):c.*8G>A rs188532608
NM_025243.4(SLC19A3):c.-2-10A>G rs6728344
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036
NM_025243.4(SLC19A3):c.1112C>T (p.Ala371Val) rs142166552
NM_025243.4(SLC19A3):c.1132A>G (p.Ile378Val) rs117864472
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn) rs145288025
NM_025243.4(SLC19A3):c.18T>A (p.Thr6=) rs141093593
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922
NM_025243.4(SLC19A3):c.390G>T (p.Val130=) rs376187918
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459
NM_025243.4(SLC19A3):c.435C>T (p.Ser145=) rs76517176
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804
NM_025243.4(SLC19A3):c.546G>A (p.Val182=) rs143188189
NM_025243.4(SLC19A3):c.549T>C (p.Ala183=) rs74693100
NM_025243.4(SLC19A3):c.557T>C (p.Phe186Ser) rs116533505
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly) rs199558186
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) rs147205930
NM_025243.4(SLC19A3):c.99A>G (p.Pro33=) rs17853011
Single allele

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.