ClinVar Miner

Variants with conflicting interpretations studied for Hyperammonemia, type III

Coded as:
Minimum review status of the submission for Hyperammonemia, type III: Collection method of the submission for Hyperammonemia, type III:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
496 34 0 16 13 0 4 29

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.

All conditions
Hyperammonemia, type III pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 1 0 0
likely pathogenic 9 0 3 1 0
uncertain significance 1 3 0 12 4
likely benign 0 1 12 0 7
benign 0 0 4 7 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Hyperammonemia, type III 496 34 0 16 13 0 4 29

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544 0.01375
NM_153006.3(NAGS):c.1281C>G (p.Ala427=) rs371886833 0.00210
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) rs185863881 0.00187
NM_153006.3(NAGS):c.1368C>G (p.Ser456=) rs147700427 0.00184
NM_153006.3(NAGS):c.1268+11G>A rs201629145 0.00183
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn) rs140481641 0.00135
NM_153006.3(NAGS):c.612A>G (p.Val204=) rs139907815 0.00134
NM_153006.3(NAGS):c.1302C>T (p.Pro434=) rs150004962 0.00068
NM_153006.3(NAGS):c.246G>A (p.Pro82=) rs747154237 0.00033
NM_153006.3(NAGS):c.722T>C (p.Val241Ala) rs201142696 0.00008
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile) rs761558985 0.00004
NM_153006.3(NAGS):c.429G>A (p.Val143=) rs199976538 0.00004
NM_153006.3(NAGS):c.534G>A (p.Pro178=) rs539061299 0.00004
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr) rs186127828 0.00004
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter) rs748875458 0.00002
NM_153006.3(NAGS):c.427-222G>A rs2049072767 0.00001
NM_153006.3(NAGS):c.1097-2A>G rs2049106256
NM_153006.3(NAGS):c.1268+2T>C rs202041339
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro) rs104894605
NM_153006.3(NAGS):c.1398G>A (p.Arg466=) rs369492320
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)
NM_153006.3(NAGS):c.310del (p.Arg104fs)
NM_153006.3(NAGS):c.569G>A (p.Trp190Ter) rs2049079486
NM_153006.3(NAGS):c.570G>A (p.Trp190Ter) rs755257734
NM_153006.3(NAGS):c.630C>T (p.Asn210=) rs2049080644
NM_153006.3(NAGS):c.654dup (p.Gly219fs)
NM_153006.3(NAGS):c.681C>G (p.Ala227=) rs886052982
NM_153006.3(NAGS):c.807C>T (p.Ser269=) rs767368629
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)

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