ClinVar Miner

Variants in gene KDM5C with conflicting interpretations

See also:
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
631 39 0 28 17 0 2 44

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 5 1 0 0
likely pathogenic 5 0 1 0 0
uncertain significance 1 1 0 13 7
likely benign 0 0 13 0 23
benign 0 0 7 23 0

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.1884G>A (p.Gln628=) rs74850270 0.00847
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=) rs147546892 0.00291
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_004187.5(KDM5C):c.408G>C (p.Arg136=) rs149293316 0.00074
NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys) rs140506776 0.00066
NM_004187.5(KDM5C):c.4597A>C (p.Thr1533Pro) rs145666414 0.00052
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln) rs139569882 0.00051
NM_004187.5(KDM5C):c.465C>T (p.Ser155=) rs138520224 0.00048
NM_004187.5(KDM5C):c.2726G>A (p.Arg909Gln) rs148661902 0.00042
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=) rs143291826 0.00040
NM_004187.5(KDM5C):c.2529G>T (p.Val843=) rs142191000 0.00032
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816 0.00026
NM_004187.5(KDM5C):c.1734C>T (p.Ser578=) rs200941258 0.00019
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773 0.00019
NM_004187.5(KDM5C):c.4039-4G>A rs371746707 0.00018
NM_004187.5(KDM5C):c.4117+9A>G rs367909568 0.00014
NM_004187.5(KDM5C):c.4611G>A (p.Ser1537=) rs149733911 0.00011
NM_004187.5(KDM5C):c.3660C>T (p.Leu1220=) rs373545419 0.00008
NM_004187.5(KDM5C):c.792G>T (p.Gly264=) rs782585482 0.00008
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_004187.5(KDM5C):c.1902C>A (p.Arg634=) rs373931846 0.00006
NM_004187.5(KDM5C):c.3439-13C>A rs45494602 0.00006
NM_004187.5(KDM5C):c.3778G>T (p.Ala1260Ser) rs782770109 0.00005
NM_004187.5(KDM5C):c.4631C>T (p.Thr1544Ile) rs782529520 0.00005
NM_004187.5(KDM5C):c.3441C>T (p.Ile1147=) rs45442400 0.00003
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His) rs782272528 0.00003
NM_004187.5(KDM5C):c.2375A>C (p.Glu792Ala) rs782426227 0.00002
NM_004187.5(KDM5C):c.3068A>G (p.Lys1023Arg) rs782367133 0.00002
NM_004187.5(KDM5C):c.2830A>T (p.Arg944Trp) rs1018074229 0.00001
NM_004187.5(KDM5C):c.3020G>A (p.Arg1007His) rs1556836492 0.00001
NM_004187.5(KDM5C):c.3897A>G (p.Glu1299=) rs782180827 0.00001
NM_004187.5(KDM5C):c.1243-2A>G rs1569274606
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter) rs370032584
NM_004187.5(KDM5C):c.2138C>T (p.Thr713Met) rs1064794733
NM_004187.5(KDM5C):c.2496G>T (p.Leu832=) rs139444870
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004187.5(KDM5C):c.3072G>T (p.Glu1024Asp) rs2146833113
NM_004187.5(KDM5C):c.3088C>T (p.Arg1030Trp) rs782388435
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004187.5(KDM5C):c.4338C>T (p.His1446=) rs797044695
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.