ClinVar Miner

Variants with conflicting interpretations studied for Congenital myasthenic syndrome 4A

Coded as:
Minimum review status of the submission for Congenital myasthenic syndrome 4A: Collection method of the submission for Congenital myasthenic syndrome 4A:
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
1039 56 0 22 1 0 6 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
Congenital myasthenic syndrome 4A pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 22 1 1
likely pathogenic 22 0 4 0
uncertain significance 1 4 0 1
likely benign 1 0 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
Congenital myasthenic syndrome 4A 1039 56 0 22 1 0 6 29

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu) rs148370803 0.00010
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_000080.4(CHRNE):c.-95G>A rs990457690 0.00003
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs) rs1268475945 0.00003
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro) rs28929768 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_000080.4(CHRNE):c.-96C>T rs748144899 0.00001
NM_000080.4(CHRNE):c.1164del (p.Lys388fs) rs1222065184 0.00001
NM_000080.4(CHRNE):c.1220-1G>A rs373710822 0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu) rs121909514 0.00001
NM_000080.4(CHRNE):c.1108del (p.Arg370fs) rs1969856640
NM_000080.4(CHRNE):c.115dup (p.Ser39fs) rs977512223
NM_000080.4(CHRNE):c.1203del (p.Gln402fs) rs1429181185
NM_000080.4(CHRNE):c.1216_1219+19del rs760623071
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs) rs769945146
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter) rs918839874
NM_000080.4(CHRNE):c.1371del (p.Cys458fs) rs1597612665
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
NM_000080.4(CHRNE):c.452_454del (p.Glu151del) rs2151098283
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln) rs2151097307
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe) rs28999110
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met) rs2151096983
NM_000080.4(CHRNE):c.934_936del (p.Met312del) rs1555546465
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter) rs56377005
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829

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