ClinVar Miner

Variants with conflicting interpretations studied for Jeune thoracic dystrophy; Nephronophthisis

Coded as:
Minimum review status of the submission for Jeune thoracic dystrophy; Nephronophthisis: Collection method of the submission for Jeune thoracic dystrophy; Nephronophthisis:
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
838 94 0 7 22 0 0 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
Jeune thoracic dystrophy; Nephronophthisis likely pathogenic uncertain significance likely benign
pathogenic 4 0 0
likely benign 0 22 0
benign 0 0 3

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
Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 0 94 0 7 22 0 0 29

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=) rs140107312 0.00129
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) rs141240501 0.00048
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser) rs148222901 0.00041
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) rs34925776 0.00034
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu) rs533077805 0.00022
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln) rs140908725 0.00016
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln) rs376163622 0.00015
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile) rs201162086 0.00012
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr) rs767696555 0.00011
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His) rs139653847 0.00009
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala) rs762885961 0.00007
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys) rs763158250 0.00006
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg) rs202087501 0.00005
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) rs377209277 0.00004
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val) rs140899101 0.00004
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln) rs151309609 0.00003
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His) rs752147287 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700 0.00003
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu) rs776138424 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His) rs141708554 0.00002
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.338A>G (p.His113Arg) rs146865517 0.00001
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699
NM_024753.5(TTC21B):c.553-13del rs749999474

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