ClinVar Miner

Variants in gene AGXT 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
202 16 0 43 23 0 4 60

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 3 0 0
likely pathogenic 33 0 0 0 0
uncertain significance 4 1 0 15 17
likely benign 0 0 14 0 10
benign 0 0 17 10 0

All variants with conflicting interpretations #

Total variants: 60
Download table as spreadsheet
HGVS dbSNP
NM_000030.2(AGXT):c.*289A>C rs4344931
NM_000030.2(AGXT):c.*41C>A rs4273214
NM_000030.2(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.2(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.2(AGXT):c.106C>T (p.Arg36Cys) rs180177157
NM_000030.2(AGXT):c.1079G>A (p.Arg360Gln) rs180177161
NM_000030.2(AGXT):c.116_117dupCA (p.Ala40Glnfs) rs180177166
NM_000030.2(AGXT):c.121G>A (p.Gly41Arg) rs121908523
NM_000030.2(AGXT):c.122G>T (p.Gly41Val) rs180177168
NM_000030.2(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.2(AGXT):c.165+16A>G rs66494441
NM_000030.2(AGXT):c.165+19_165+92dup74 rs180177174
NM_000030.2(AGXT):c.166-100A>C rs57017537
NM_000030.2(AGXT):c.166-14C>T rs180177176
NM_000030.2(AGXT):c.221_227dupTCACACT (p.Val77Hisfs) rs180177183
NM_000030.2(AGXT):c.245G>A (p.Gly82Glu) rs121908522
NM_000030.2(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.2(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.2(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.2(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.2(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.2(AGXT):c.33delC (p.Lys12Argfs) rs180177201
NM_000030.2(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000030.2(AGXT):c.352C>T (p.Arg118Cys) rs376844297
NM_000030.2(AGXT):c.358+13C>T rs34995778
NM_000030.2(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.2(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.2(AGXT):c.481G>T (p.Gly161Cys) rs180177227
NM_000030.2(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_000030.2(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.2(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.2(AGXT):c.560C>T (p.Ser187Phe) rs180177238
NM_000030.2(AGXT):c.568G>A (p.Gly190Arg) rs180177239
NM_000030.2(AGXT):c.577delC (p.Leu193Phefs) rs180177241
NM_000030.2(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.2(AGXT):c.653C>T (p.Ser218Leu) rs180177253
NM_000030.2(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.2(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.2(AGXT):c.680+17C>T rs11693280
NM_000030.2(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000030.2(AGXT):c.698G>A (p.Arg233His) rs121908527
NM_000030.2(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.2(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000030.2(AGXT):c.732C>A (p.Ile244=) rs147106773
NM_000030.2(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.2(AGXT):c.777-1G>C rs180177267
NM_000030.2(AGXT):c.822G>C (p.Glu274Asp) rs146525143
NM_000030.2(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.2(AGXT):c.847-1G>C rs180177285
NM_000030.2(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000030.2(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.2(AGXT):c.907C>T (p.Gln303Ter) rs180177294
NM_000030.2(AGXT):c.942+14T>G rs886055843
NM_000030.2(AGXT):c.943-1G>T rs180177298
NM_000030.2(AGXT):c.976G>A (p.Val326Ile) rs115057148
NM_000030.2(AGXT):c.976delG (p.Val326Tyrfs) rs180177301
NM_000030.2(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
Single allele

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