ClinVar Miner

Variants with conflicting interpretations studied for Ornithine carbamoyltransferase deficiency

Coded as:
Minimum review status of the submission for Ornithine carbamoyltransferase deficiency: Collection method of the submission for Ornithine carbamoyltransferase 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
491 79 0 20 11 0 12 39

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
Ornithine carbamoyltransferase deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 12 8 0 1
likely pathogenic 12 0 5 0 0
uncertain significance 8 5 0 7 6
likely benign 0 0 7 0 8
benign 1 0 6 8 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
Ornithine carbamoyltransferase deficiency 491 79 0 20 11 0 12 39

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000531.6(OTC):c.-366A>G rs191615506 0.00354
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_000531.6(OTC):c.941A>C (p.Glu314Ala) rs137899554 0.00028
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_000531.6(OTC):c.1005+11A>T rs375524303 0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158 0.00005
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415 0.00005
NM_000531.6(OTC):c.85C>G (p.Gln29Glu) rs752916728 0.00004
NM_000531.6(OTC):c.216+9C>T rs774764719 0.00002
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_000531.6(OTC):c.147C>T (p.Thr49=) rs144153859 0.00001
NM_000531.6(OTC):c.286T>C (p.Ser96Pro) rs184053962 0.00001
NM_000531.6(OTC):c.556C>T (p.Leu186=) rs1337833268 0.00001
NM_000531.6(OTC):c.68G>A (p.Arg23Gln) rs148660170 0.00001
NM_000531.6(OTC):c.722G>A (p.Gly241Asp) rs1461226043 0.00001
NM_000531.6(OTC):c.736C>G (p.Leu246Val) rs1168053730 0.00001
NM_000531.6(OTC):c.896C>T (p.Thr299Ile) rs756772340 0.00001
NM_000531.5(OTC):c.-106C>A rs749748052
NM_000531.5(OTC):c.-116C>T rs1555971006
NM_000531.6(OTC):c.1009G>T (p.Val337Phe) rs72558487
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe) rs1569282905
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del) rs2068592611
NM_000531.6(OTC):c.1027A>G (p.Thr343Ala)
NM_000531.6(OTC):c.1033T>C (p.Tyr345His) rs66469337
NM_000531.6(OTC):c.116G>A (p.Gly39Asp) rs1602014500
NM_000531.6(OTC):c.448A>T (p.Thr150Ser)
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.582C>A (p.Ile194=) rs200564773
NM_000531.6(OTC):c.589G>A (p.Gly197Arg) rs72556301
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.77+5G>C rs72552302
NM_000531.6(OTC):c.803T>C (p.Met268Thr) rs72558449
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.867G>A (p.Lys289=) rs72558456
NM_000531.6(OTC):c.903A>T (p.Leu301Phe) rs72558462

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