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 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
330 61 0 40 19 0 11 64

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 33 8 1 1
likely pathogenic 33 0 5 1 1
uncertain significance 8 5 0 18 2
likely benign 1 1 18 0 7
benign 1 1 2 7 0

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP
NM_003060.3(SLC22A5):c.1202dupA (p.Tyr401Terfs) rs121908887
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=) rs200637508
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054
NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val) rs139775414
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter) rs1057518297
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys) rs386134218
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=) rs142355575
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=) rs142264458
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=) rs149521997
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu) rs72552735
NM_003060.4(SLC22A5):c.1434C>T (p.Pro478=) rs140495935
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=) rs150457229
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile) rs11568513
NM_003060.4(SLC22A5):c.1451-16G>A rs140988771
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.4(SLC22A5):c.148del (p.Cys50fs) rs386134227
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs) rs1554088578
NM_003060.4(SLC22A5):c.1556_1557AC[4] (p.Ile521fs) rs386134225
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu) rs145792427
NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile) rs148233131
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs) rs1057516797
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=) rs377734902
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003060.4(SLC22A5):c.393+1G>A rs1057517069
NM_003060.4(SLC22A5):c.394-16T>A rs775097754
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter) rs72552727
NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile) rs121908892
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=) rs150705788
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met) rs386134193
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=) rs145350949
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.64_66TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val) rs72552728
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=) rs121908893
NM_003060.4(SLC22A5):c.806del (p.Leu269fs) rs386134204
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=) rs146185976
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter) rs386134212
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu) rs75783492
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val) rs77300588

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