ClinVar Miner

Variants in gene DDC 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
499 24 0 14 14 0 8 36

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 8 5 0 0
likely pathogenic 8 0 3 0 0
uncertain significance 5 3 0 13 1
likely benign 0 0 13 0 6
benign 0 0 1 6 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001082971.2(DDC):c.1385G>A (p.Arg462Gln) rs11575542 0.05076
NM_001082971.2(DDC):c.649A>G (p.Met217Val) rs6263 0.03032
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_001082971.2(DDC):c.436-12T>C rs144962948 0.00650
NM_001082971.2(DDC):c.96C>T (p.Asp32=) rs11575290 0.00319
NM_001082971.2(DDC):c.715A>T (p.Met239Leu) rs11575376 0.00069
NM_001082971.2(DDC):c.1435A>G (p.Arg479Gly) rs200450773 0.00016
NM_001082971.2(DDC):c.366C>T (p.Leu122=) rs377528325 0.00014
NM_001082971.2(DDC):c.550G>C (p.Val184Leu) rs139433641 0.00011
NM_001082971.2(DDC):c.135T>C (p.Ala45=) rs11575291 0.00006
NM_001082971.2(DDC):c.315+11G>A rs753275419 0.00006
NM_001082971.2(DDC):c.816A>C (p.Ala272=) rs767990522 0.00006
NM_001082971.2(DDC):c.1044T>C (p.His348=) rs527805112 0.00004
NM_001082971.2(DDC):c.272C>T (p.Ala91Val) rs137853211 0.00004
NM_001082971.2(DDC):c.316-6C>T rs377474761 0.00004
NM_001082971.2(DDC):c.822C>T (p.Tyr274=) rs746729797 0.00004
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_001082971.2(DDC):c.6C>T (p.Asn2=) rs749246611 0.00003
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr) rs137853212 0.00003
NM_001082971.2(DDC):c.206C>T (p.Thr69Met) rs777956037 0.00002
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu) rs746244631 0.00002
NM_001082971.2(DDC):c.446G>C (p.Ser149Thr) rs971183744 0.00002
NM_001082971.2(DDC):c.1234C>T (p.Arg412Trp) rs542063660 0.00001
NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys) rs142110773 0.00001
NM_001082971.2(DDC):c.361T>C (p.Trp121Arg) rs371117662 0.00001
NM_001082971.2(DDC):c.564C>T (p.Ser188=) rs371336321 0.00001
NM_001082971.2(DDC):c.853C>T (p.Arg285Trp) rs886062372 0.00001
NM_001082971.2(DDC):c.923A>T (p.Asn308Ile) rs375716771 0.00001
NM_000790.4(DDC):c.316del rs1364054304
NM_001082971.2(DDC):c.1041+12A>T rs2042651349
NM_001082971.2(DDC):c.1241dup (p.Ser416fs)
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
NM_001082971.2(DDC):c.140C>A (p.Pro47His)
NM_001082971.2(DDC):c.316-5G>C rs2044474558
NM_001082971.2(DDC):c.436-6A>G rs770694855
NM_001082971.2(DDC):c.478C>T (p.Arg160Trp) rs886062374

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