ClinVar Miner

Variants with conflicting interpretations studied for Arginase deficiency

Coded as:
Minimum review status of the submission for Arginase deficiency: Collection method of the submission for Arginase deficiency:
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
433 34 0 20 6 0 8 31

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
Arginase deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 19 7 0 0
likely pathogenic 19 0 4 0 0
uncertain significance 7 4 0 5 1
likely benign 0 0 5 0 1
benign 0 0 1 1 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
Arginase deficiency 433 34 0 20 6 0 8 31

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126 0.00004
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr) rs202219126 0.00004
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly) rs140549609 0.00003
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) rs104893940 0.00003
NM_000045.4(ARG1):c.3G>A (p.Met1Ile) rs745624953 0.00002
NM_000045.4(ARG1):c.912C>T (p.Phe304=) rs373480378 0.00002
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) rs377280518 0.00002
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) rs753829097 0.00001
NM_000045.4(ARG1):c.305+7T>C rs886061060 0.00001
NM_000045.4(ARG1):c.372dup (p.Ala125fs) rs776939220 0.00001
NM_000045.4(ARG1):c.413G>T (p.Gly138Val) rs104893943 0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu) rs767219084 0.00001
NM_000045.4(ARG1):c.57+1G>A rs587776539 0.00001
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg) rs104893948 0.00001
NM_000045.4(ARG1):c.129del (p.Glu44fs) rs1169538148
NM_000045.4(ARG1):c.272dup (p.Arg92fs) rs796051923
NM_000045.4(ARG1):c.2T>C (p.Met1Thr) rs1554249332
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr) rs28941474
NM_000045.4(ARG1):c.341_344dup (p.Asp117fs)
NM_000045.4(ARG1):c.366G>A (p.Trp122Ter) rs2114539596
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile) rs1451472748
NM_000045.4(ARG1):c.466-2A>G rs1554251045
NM_000045.4(ARG1):c.707dup (p.Asp237fs)
NM_000045.4(ARG1):c.745G>C (p.Val249Leu) rs182650447
NM_000045.4(ARG1):c.75A>G (p.Glu25=) rs755973004
NM_000045.4(ARG1):c.804G>C (p.Gly268=) rs747275658
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp) rs1326930389
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del) rs1399124034
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg) rs866970619
NM_000045.4(ARG1):c.936C>T (p.His312=) rs776119677
NM_000045.4(ARG1):c.938del (p.Lys313fs) rs1554251356

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