ClinVar Miner

Variants in gene DNAAF2 with conflicting interpretations

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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 Variants with at least 2 submissions 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 kind of conflict
102 18 0 7 14 0 1 20

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 uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 7 9
likely benign 0 7 0 7
benign 0 9 7 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_018139.2(DNAAF2):c.129C>T (p.Leu43=) rs567371975
NM_018139.2(DNAAF2):c.1367C>T (p.Pro456Leu) rs137991407
NM_018139.2(DNAAF2):c.1405T>A (p.Cys469Ser) rs202079418
NM_018139.2(DNAAF2):c.1406G>A (p.Cys469Tyr) rs150737854
NM_018139.2(DNAAF2):c.144C>A (p.Asn48Lys) rs116185352
NM_018139.2(DNAAF2):c.1494G>A (p.Ser498=) rs2985688
NM_018139.2(DNAAF2):c.1584T>A (p.Asn528Lys) rs144077436
NM_018139.2(DNAAF2):c.1585C>T (p.Gln529Ter) rs139416233
NM_018139.2(DNAAF2):c.1626G>C (p.Arg542=) rs35763780
NM_018139.2(DNAAF2):c.1687G>T (p.Ala563Ser) rs138511448
NM_018139.2(DNAAF2):c.1851C>T (p.Asn617=) rs147090213
NM_018139.2(DNAAF2):c.1953A>G (p.Pro651=) rs34352773
NM_018139.2(DNAAF2):c.20C>T (p.Ser7Phe) rs577796590
NM_018139.2(DNAAF2):c.2388C>T (p.His796=) rs140997181
NM_018139.2(DNAAF2):c.423C>T (p.Val141=) rs373251065
NM_018139.2(DNAAF2):c.561C>T (p.Thr187=) rs529083217
NM_018139.2(DNAAF2):c.58G>C (p.Val20Leu) rs572322476
NM_018139.2(DNAAF2):c.707C>T (p.Pro236Leu) rs74050429
NM_018139.2(DNAAF2):c.728A>C (p.Glu243Ala) rs112044935
NM_018139.2(DNAAF2):c.78C>T (p.Ala26=) rs7156297

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