ClinVar Miner

Variants in gene DTNA with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
531 44 0 16 12 0 3 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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 0 2 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 2 1 0 12 2
likely benign 0 0 12 0 16
benign 0 0 2 16 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001386795.1(DTNA):c.1435-19T>C rs141620769 0.00328
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) rs146923532 0.00285
NM_001386795.1(DTNA):c.1176-8T>C rs41274310 0.00216
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_001386795.1(DTNA):c.2178A>C (p.Ala726=) rs145486636 0.00063
NM_001386795.1(DTNA):c.955A>G (p.Met319Val) rs141981161 0.00047
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) rs138143719 0.00034
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln) rs142009291 0.00028
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=) rs397517443 0.00016
NM_001386795.1(DTNA):c.1086-321A>C rs191973037 0.00010
NM_001386795.1(DTNA):c.1454G>C (p.Ser485Thr) rs190619495 0.00008
NM_001386795.1(DTNA):c.603+15T>C rs367772080 0.00006
NM_001386795.1(DTNA):c.675G>A (p.Leu225=) rs376519672 0.00005
NM_001386795.1(DTNA):c.1875G>A (p.Gly625=) rs542483546 0.00004
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) rs145425478 0.00003
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met) rs1057518968 0.00002
NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu) rs104894654 0.00002
NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser) rs775975702 0.00001
NM_001386795.1(DTNA):c.1695C>T (p.Ser565=) rs774966330 0.00001
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe) rs533568822 0.00001
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn) rs147115867 0.00001
NM_001386795.1(DTNA):c.68-5A>G rs1243110074 0.00001
NM_001386795.1(DTNA):c.1744-10G>A rs192561043
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His) rs200246467

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