ClinVar Miner

Variants with conflicting interpretations studied for Citrullinemia type I

Coded as:
Minimum review status of the submission for Citrullinemia type I: Y axis collection method of the submission for Citrullinemia type I:
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 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
94 49 0 32 8 0 10 46

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
Citrullinemia type I pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 18 4 1 1
likely pathogenic 20 0 2 0 0
uncertain significance 5 5 0 8 1
likely benign 1 0 2 0 9
benign 1 0 1 6 0

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition 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
Citrullinemia type I 152 8 0 21 3 0 6 29
not provided 0 15 0 14 1 0 7 19
not specified 0 7 0 10 6 0 2 15
Citrin deficiency 0 36 0 3 0 0 0 3

All variants with conflicting interpretations #

Total variants: 46
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HGVS dbSNP
NM_000050.4(ASS1):c.-4C>T rs138350285
NM_000050.4(ASS1):c.106-10T>G rs73541957
NM_000050.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126
NM_000050.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_000050.4(ASS1):c.1088G>A (p.Arg363Gln) rs771937610
NM_000050.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_000050.4(ASS1):c.1194-1G>C rs727503814
NM_000050.4(ASS1):c.175-16G>T rs373936572
NM_000050.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644
NM_000050.4(ASS1):c.262C>A (p.Leu88Ile) rs895822620
NM_000050.4(ASS1):c.323G>T rs35269064
NM_000050.4(ASS1):c.364-6T>C rs116103138
NM_000050.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636
NM_000050.4(ASS1):c.450_451delCT (p.Phe150Leufs) rs786204648
NM_000050.4(ASS1):c.470G>A (p.Arg157His) rs121908637
NM_000050.4(ASS1):c.496-2A>G rs398123130
NM_000050.4(ASS1):c.501C>T (p.His167=) rs10901072
NM_000050.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_000050.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643
NM_000050.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000
NM_000050.4(ASS1):c.597+8C>T rs77343702
NM_000050.4(ASS1):c.688+4T>C rs78432485
NM_000050.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032
NM_000050.4(ASS1):c.773+49C>T rs763389916
NM_000050.4(ASS1):c.787G>A (p.Val263Met) rs192838388
NM_000050.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_000050.4(ASS1):c.805G>A (p.Val269Met) rs370595480
NM_000050.4(ASS1):c.814C>T (p.Arg272Cys) rs762387914
NM_000050.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645
NM_000050.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106
NM_000050.4(ASS1):c.876T>C (p.His292=) rs1057484
NM_000050.4(ASS1):c.892delG (p.Glu298Argfs) rs770362721
NM_000050.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875
NM_000050.4(ASS1):c.928A>C (p.Lys310Gln) rs121908648
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_000050.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639
NM_014251.2(SLC25A13):c.1671C>T (p.Thr557=) rs79886797
NM_014251.2(SLC25A13):c.1884C>T (p.Asn628=) rs35539807
NM_014251.2(SLC25A13):c.675G>A (p.Ser225=) rs78247004
NM_054012.3(ASS1):c.1101G>A (p.Leu367=) rs139031154
NM_054012.3(ASS1):c.174+4C>A rs368133957
NM_054012.3(ASS1):c.240C>T (p.Ser80=) rs147910468
NM_054012.3(ASS1):c.420+13T>G rs201883474
NM_054012.3(ASS1):c.566+11C>T rs200527708
NM_054012.3(ASS1):c.858A>T (p.Ala286=) rs201905628
NM_054012.3(ASS1):c.929A>G (p.Lys310Arg) rs199751308

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