ClinVar Miner

Variants with conflicting interpretations studied for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Coded as:
Minimum review status of the submission for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A: Collection method of the submission for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A:
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
562 43 0 12 19 0 2 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
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 8 0 0 0
likely pathogenic 8 0 2 0 0
uncertain significance 0 2 0 15 6
likely benign 0 0 15 0 4
benign 0 0 6 4 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
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 562 43 0 12 19 0 2 31

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) rs41273140 0.01571
NM_001358530.2(MOCS1):c.124-69G>A rs45487695 0.00266
NM_001358530.2(MOCS1):c.1668C>T (p.His556=) rs149233109 0.00240
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) rs143912353 0.00159
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_001358530.2(MOCS1):c.282G>A (p.Pro94=) rs145146059 0.00056
NM_001358530.2(MOCS1):c.981+12C>T rs377628500 0.00045
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) rs377167949 0.00041
NM_001358530.2(MOCS1):c.1752G>A (p.Arg584=) rs77225343 0.00035
NM_001358530.2(MOCS1):c.758-9C>T rs368402544 0.00014
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=) rs745789021 0.00012
NM_001358530.2(MOCS1):c.583+12T>C rs199797027 0.00011
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp) rs201889779 0.00006
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) rs104893970 0.00006
NM_001358530.2(MOCS1):c.162G>A (p.Ala54=) rs200316862 0.00005
NM_001358530.2(MOCS1):c.583+7G>A rs150131853 0.00004
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=) rs771259156 0.00003
NM_001358530.2(MOCS1):c.1102+2T>C rs1345407391 0.00001
NM_001358530.2(MOCS1):c.1150+20G>A rs752653792 0.00001
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831 0.00001
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=) rs200764011 0.00001
NM_001358530.2(MOCS1):c.426C>T (p.Leu142=) rs375882259 0.00001
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) rs104893969 0.00001
NM_001358530.2(MOCS1):c.1150+1G>T rs2149398895
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs) rs397518419
NM_001358530.2(MOCS1):c.291del (p.Ala99fs) rs755808099
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=) rs111640560
NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs)
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=) rs762810343
NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.