ClinVar Miner

Variants in gene CHD7 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
1256 99 0 53 33 1 1 81

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 drug response protective other
pathogenic 0 19 0 0 0 0 0 0
likely pathogenic 20 0 1 1 1 1 1 1
uncertain significance 0 0 0 24 12 0 0 0
likely benign 0 0 24 0 33 0 0 0
benign 0 0 12 33 0 0 0 0

All variants with conflicting interpretations #

Total variants: 81
Download table as spreadsheet
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892
NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs) rs1554581674
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299
NM_017780.4(CHD7):c.1644G>A (p.Pro548=) rs748842029
NM_017780.4(CHD7):c.1665+34G>A rs7836586
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938
NM_017780.4(CHD7):c.2238+39G>A rs4540437
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2614-14del rs748282026
NM_017780.4(CHD7):c.2614-45A>G rs6471902
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164
NM_017780.4(CHD7):c.2835+8T>C rs202141372
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) rs1554597512
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3209del (p.Val1070fs) rs1554597952
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) rs199675568
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) rs1554599462
NM_017780.4(CHD7):c.360C>T (p.Gly120=) rs375438732
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4533+46A>G rs7844902
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) rs191081055
NM_017780.4(CHD7):c.5210+2T>C rs1554602587
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) rs1021645395
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=) rs373869399
NM_017780.4(CHD7):c.5496G>A (p.Glu1832=) rs766542090
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234
NM_017780.4(CHD7):c.5973A>G (p.Gln1991=) rs768313777
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742
NM_017780.4(CHD7):c.7165-5A>G rs376076407
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) rs375204972
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=) rs767368987
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu) rs147534616
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr) rs537091457
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577
Single allele rs1554581005

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