ClinVar Miner

Variants in gene SLC22A5 with conflicting interpretations

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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
195 59 0 35 6 0 12 49

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 26 7 2 1
likely pathogenic 26 0 6 0 0
uncertain significance 7 6 0 6 0
likely benign 2 0 6 0 9
benign 1 0 0 9 0

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
HGVS dbSNP
NM_003060.3(SLC22A5):c.*47C>T rs1045020
NM_003060.3(SLC22A5):c.1052+5G>A rs927950152
NM_003060.3(SLC22A5):c.1078_1083dupGGGCTT (p.Leu361_Ser362insGlyLeu) rs896634334
NM_003060.3(SLC22A5):c.1125C>T (p.Asn375=) rs202219455
NM_003060.3(SLC22A5):c.1185A>G (p.Gln395=) rs916795176
NM_003060.3(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521
NM_003060.3(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054
NM_003060.3(SLC22A5):c.1202dupA (p.Tyr401Terfs) rs121908887
NM_003060.3(SLC22A5):c.1249A>G (p.Met417Val) rs139775414
NM_003060.3(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732
NM_003060.3(SLC22A5):c.1324_1325delGCinsAT (p.Ala442Ile) rs267607053
NM_003060.3(SLC22A5):c.1340A>G (p.Tyr447Cys) rs386134218
NM_003060.3(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514
NM_003060.3(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734
NM_003060.3(SLC22A5):c.1368A>G (p.Thr456=) rs142355575
NM_003060.3(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003060.3(SLC22A5):c.1377A>G (p.Arg459=) rs142264458
NM_003060.3(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624
NM_003060.3(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222
NM_003060.3(SLC22A5):c.1434C>T (p.Pro478=) rs140495935
NM_003060.3(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.3(SLC22A5):c.1556_1559dupACAC (p.Ile521Hisfs) rs386134225
NM_003060.3(SLC22A5):c.1590G>T (p.Met530Ile) rs148233131
NM_003060.3(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525
NM_003060.3(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.3(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159
NM_003060.3(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003060.3(SLC22A5):c.394-16T>A rs775097754
NM_003060.3(SLC22A5):c.396G>A (p.Trp132Ter) rs72552727
NM_003060.3(SLC22A5):c.3G>T (p.Met1Ile) rs121908892
NM_003060.3(SLC22A5):c.414C>T (p.Asp138=) rs150705788
NM_003060.3(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558
NM_003060.3(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427
NM_003060.3(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052
NM_003060.3(SLC22A5):c.451G>A (p.Val151Met) rs386134193
NM_003060.3(SLC22A5):c.455G>A (p.Gly152Asp) rs747821417
NM_003060.3(SLC22A5):c.458_459delTG (p.Val153Alafs) rs386134195
NM_003060.3(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.3(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889
NM_003060.3(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520
NM_003060.3(SLC22A5):c.523G>A (p.Val175Met) rs781721860
NM_003060.3(SLC22A5):c.529A>G (p.Met177Val) rs145068530
NM_003060.3(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.3(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888
NM_003060.3(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.3(SLC22A5):c.680G>A (p.Arg227His) rs185551386
NM_003060.3(SLC22A5):c.695C>T (p.Thr232Met) rs114269482
NM_003060.3(SLC22A5):c.71delT (p.Leu24Argfs) rs775502377
NM_003060.3(SLC22A5):c.806delT (p.Leu269Hisfs) rs386134204

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