ClinVar Miner

Variants with conflicting interpretations studied for ZNF469-related disorder

Minimum review status of the submission for ZNF469-related disorder: Collection method of the submission for ZNF469-related disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
3 72 0 50 47 0 0 79

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.

All conditions
ZNF469-related disorder uncertain significance likely benign benign
uncertain significance 0 19 3
likely benign 26 0 38
benign 2 12 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition 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
not provided 0 89 0 31 31 0 0 57
Cardiovascular phenotype 0 94 0 28 21 0 0 49
not specified 0 59 0 19 13 0 0 31

All variants with conflicting interpretations #

Total variants: 79
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln) rs181077813 0.01341
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=) rs58401704 0.01305
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His) rs78446958 0.00467
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His) rs150598363 0.00431
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=) rs572299080 0.00311
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00275
NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=) rs539527724 0.00267
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu) rs76389306 0.00251
NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg) rs532857190 0.00223
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met) rs202188220 0.00214
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=) rs558108271 0.00185
NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His) rs201943633 0.00179
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834 0.00177
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met) rs184458982 0.00170
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr) rs540655479 0.00166
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg) rs569602115 0.00135
NM_001367624.2(ZNF469):c.7466G>A (p.Arg2489Gln) rs547492890 0.00135
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00133
NM_001367624.2(ZNF469):c.9516C>T (p.Ala3172=) rs577913880 0.00131
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln) rs144492145 0.00111
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=) rs191234581 0.00106
NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=) rs373162171 0.00101
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys) rs543370102 0.00092
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=) rs554795578 0.00090
NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618 0.00088
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn) rs867530230 0.00081
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00078
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser) rs202205643 0.00073
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln) rs200153921 0.00073
NM_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg) rs772817384 0.00068
NM_001367624.2(ZNF469):c.11697A>C (p.Arg3899Ser) rs561879014 0.00062
NM_001367624.2(ZNF469):c.6829G>A (p.Val2277Ile) rs760816769 0.00061
NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly) rs536054902 0.00059
NM_001367624.2(ZNF469):c.1363C>A (p.Pro455Thr) rs560911127 0.00057
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu) rs771000169 0.00054
NM_001367624.2(ZNF469):c.5537C>T (p.Thr1846Met) rs539550777 0.00049
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp) rs575820215 0.00043
NM_001367624.2(ZNF469):c.2168G>C (p.Ser723Thr) rs777747160 0.00039
NM_001367624.2(ZNF469):c.4376T>G (p.Leu1459Arg) rs559625962 0.00038
NM_001367624.2(ZNF469):c.1689C>T (p.Phe563=) rs751136702 0.00031
NM_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg) rs183149417 0.00026
NM_001367624.2(ZNF469):c.11137C>T (p.Arg3713Cys) rs748126365 0.00026
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr) rs273585623 0.00026
NM_001367624.2(ZNF469):c.5229C>A (p.Pro1743=) rs192819567 0.00024
NM_001367624.2(ZNF469):c.1522G>A (p.Ala508Thr) rs750005577 0.00022
NM_001367624.2(ZNF469):c.6965T>C (p.Met2322Thr) rs531612776 0.00022
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=) rs273585633 0.00021
NM_001367624.2(ZNF469):c.5915G>T (p.Gly1972Val) rs573931575 0.00021
NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg) rs557636016 0.00020
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg) rs766410344 0.00019
NM_001367624.2(ZNF469):c.334G>A (p.Ala112Thr) rs766853024 0.00015
NM_001367624.2(ZNF469):c.5341G>A (p.Gly1781Ser) rs555047442 0.00015
NM_001367624.2(ZNF469):c.8252C>T (p.Ser2751Leu) rs376638940 0.00015
NM_001367624.2(ZNF469):c.9620C>T (p.Ala3207Val) rs563202944 0.00015
NM_001367624.2(ZNF469):c.7321C>T (p.Pro2441Ser) rs546137802 0.00013
NM_001367624.2(ZNF469):c.3278A>G (p.Asp1093Gly) rs533979613 0.00011
NM_001367624.2(ZNF469):c.402C>T (p.Asp134=) rs569036398 0.00010
NM_001367624.2(ZNF469):c.11185G>A (p.Gly3729Ser) rs273585629 0.00009
NM_001367624.2(ZNF469):c.4849C>T (p.Pro1617Ser) rs557351664 0.00008
NM_001367624.2(ZNF469):c.11244C>T (p.Ser3748=) rs936296523 0.00007
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His) rs567038987 0.00007
NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys) rs896312288 0.00007
NM_001367624.2(ZNF469):c.4998G>A (p.Pro1666=) rs1199257823 0.00005
NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser) rs745468033 0.00003
NM_001367624.2(ZNF469):c.11134G>A (p.Ala3712Thr) rs759634111 0.00002
NM_001367624.2(ZNF469):c.5606G>A (p.Arg1869Gln) rs887848152 0.00002
NM_001367624.2(ZNF469):c.2695C>T (p.Pro899Ser) rs973845764 0.00001
NM_001367624.2(ZNF469):c.10325G>A (p.Arg3442Lys) rs199528724
NM_001367624.2(ZNF469):c.10328G>C (p.Gly3443Ala) rs140056980
NM_001367624.2(ZNF469):c.10473TCC[1] (p.Pro3493del) rs145451469
NM_001367624.2(ZNF469):c.2625_2645del (p.Pro876_Gly882del) rs113102840
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu) rs568046708
NM_001367624.2(ZNF469):c.4088C>G (p.Pro1363Arg) rs953923193
NM_001367624.2(ZNF469):c.5862C>G (p.Pro1954=) rs201666199
NM_001367624.2(ZNF469):c.5862C>T (p.Pro1954=) rs201666199
NM_001367624.2(ZNF469):c.6414G>T (p.Ser2138=) rs548774131
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile) rs886043704
NM_001367624.2(ZNF469):c.8642G>A (p.Arg2881His) rs142753357

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.