ClinVar Miner

Variants in gene DNAAF1 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
104 25 2 16 11 0 1 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 2 0 0 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 0 1 0 7 5
likely benign 0 0 7 0 16
benign 0 0 5 16 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_178452.4(DNAAF1):c.1698+1G>A rs139519641
NM_178452.5(DNAAF1):c.1030+14C>T rs202113269
NM_178452.5(DNAAF1):c.1031-5A>T rs79772571
NM_178452.5(DNAAF1):c.1077G>A (p.Ala359=) rs35504640
NM_178452.5(DNAAF1):c.1083C>T (p.Gly361=) rs200487337
NM_178452.5(DNAAF1):c.1161C>G (p.Asp387Glu) rs36062234
NM_178452.5(DNAAF1):c.1178A>G (p.Lys393Arg) rs17856705
NM_178452.5(DNAAF1):c.1227T>G (p.Gly409=) rs148674729
NM_178452.5(DNAAF1):c.1245C>G (p.Thr415=) rs147804813
NM_178452.5(DNAAF1):c.1296G>C (p.Glu432Asp) rs9972733
NM_178452.5(DNAAF1):c.1299C>T (p.Asp433=) rs141074491
NM_178452.5(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199
NM_178452.5(DNAAF1):c.1496C>T (p.Pro499Leu) rs112114400
NM_178452.5(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276
NM_178452.5(DNAAF1):c.1505C>T (p.Pro502Leu) rs11644164
NM_178452.5(DNAAF1):c.1567G>A (p.Val523Ile) rs148387367
NM_178452.5(DNAAF1):c.1664A>T (p.Asp555Val) rs145973397
NM_178452.5(DNAAF1):c.1750G>A (p.Asp584Asn) rs142345677
NM_178452.5(DNAAF1):c.1848G>A (p.Ala616=) rs76108116
NM_178452.5(DNAAF1):c.1975C>G (p.Leu659Val) rs2288021
NM_178452.5(DNAAF1):c.228C>T (p.His76=) rs61743547
NM_178452.5(DNAAF1):c.507G>C (p.Leu169=) rs370128838
NM_178452.5(DNAAF1):c.524T>G (p.Leu175Arg) rs267607227
NM_178452.5(DNAAF1):c.685C>T (p.His229Tyr) rs35496754
NM_178452.5(DNAAF1):c.780G>C (p.Gln260His) rs112051327
NM_178452.5(DNAAF1):c.811C>T (p.Arg271Ter) rs267607225
NM_178452.5(DNAAF1):c.864-17_864-14delCTTT rs141073777
NM_178452.5(DNAAF1):c.919C>G (p.Gln307Glu) rs111472069
NM_178452.5(DNAAF1):c.988C>A (p.Arg330=) rs112191420

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