ClinVar Miner

Variants in gene DDX41 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
410 74 0 19 15 4 13 45

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 risk factor
pathogenic 0 7 4 0 0 3
likely pathogenic 7 0 10 0 0 1
uncertain significance 4 10 0 15 1 2
likely benign 0 0 15 0 12 0
benign 0 0 1 12 0 0
risk factor 3 1 2 0 0 0

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016222.4(DDX41):c.*3C>T rs73804364 0.00886
NM_016222.4(DDX41):c.*74C>T rs78923296 0.00476
NM_016222.4(DDX41):c.1299G>A (p.Pro433=) rs61736556 0.00279
NM_016222.4(DDX41):c.1233G>A (p.Glu411=) rs147023941 0.00148
NM_016222.4(DDX41):c.1354C>T (p.Leu452=) rs143421709 0.00115
NM_016222.4(DDX41):c.1470C>T (p.Asp490=) rs151018711 0.00102
NM_016222.4(DDX41):c.6G>T (p.Glu2Asp) rs138435584 0.00032
NM_016222.4(DDX41):c.741G>A (p.Glu247=) rs143274979 0.00019
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp) rs142143752 0.00017
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_016222.4(DDX41):c.38C>T (p.Thr13Ile) rs61736559 0.00010
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_016222.4(DDX41):c.1016G>A (p.Arg339His) rs774698335 0.00006
NM_016222.4(DDX41):c.1308C>T (p.Leu436=) rs767835537 0.00004
NM_016222.4(DDX41):c.1622-3C>T rs200471726 0.00004
NM_016222.4(DDX41):c.882C>T (p.Cys294=) rs550154951 0.00004
NM_016222.4(DDX41):c.1105C>T (p.Arg369Ter) rs747672157 0.00002
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp) rs371460149 0.00002
NM_016222.4(DDX41):c.1650G>A (p.Ala550=) rs747056004 0.00001
NM_016222.4(DDX41):c.1665C>T (p.Ala555=) rs1356103698 0.00001
NM_016222.4(DDX41):c.364G>T (p.Glu122Ter) rs200567842 0.00001
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg) rs746166328 0.00001
NM_016222.4(DDX41):c.645-10C>T rs780120166 0.00001
NM_016222.4(DDX41):c.649T>C (p.Ser217Pro) rs376867329 0.00001
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter) rs899399494 0.00001
NM_016222.4(DDX41):c.1018T>A (p.Tyr340Asn)
NM_016222.4(DDX41):c.1030G>T (p.Asp344Tyr)
NM_016222.4(DDX41):c.1046T>A (p.Met349Lys)
NM_016222.4(DDX41):c.1203T>G (p.Ala401=)
NM_016222.4(DDX41):c.1332C>T (p.Asp444=) rs554494724
NM_016222.4(DDX41):c.1334_1336del (p.Val445del) rs2127436133
NM_016222.4(DDX41):c.138+5G>A rs187714514
NM_016222.4(DDX41):c.1563C>T (p.Gly521=)
NM_016222.4(DDX41):c.1574G>A (p.Arg525His) rs869312828
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs) rs866179648
NM_016222.4(DDX41):c.189G>C (p.Gln63His)
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs) rs1554111683
NM_016222.4(DDX41):c.27+9G>A rs765022870
NM_016222.4(DDX41):c.591G>A (p.Lys197=)
NM_016222.4(DDX41):c.986AGA[2] (p.Lys331del)

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