ClinVar Miner

Variants with conflicting interpretations studied for Brittle cornea syndrome 1

Coded as:
Minimum review status of the submission for Brittle cornea syndrome 1: Collection method of the submission for Brittle cornea syndrome 1:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
334 39 0 52 3 0 0 55

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
Brittle cornea syndrome 1 uncertain significance likely benign benign
uncertain significance 0 3 0
likely benign 3 0 52
benign 0 52 0

Condition to condition summary #

Total conditions: 1
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
Brittle cornea syndrome 1 334 39 0 52 3 0 0 55

All variants with conflicting interpretations #

Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506 0.09509
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190 0.09442
NM_001367624.2(ZNF469):c.*46C>A rs78600508 0.08121
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu) rs141218390 0.06780
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val) rs3812954 0.06060
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=) rs111557381 0.06017
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803 0.04541
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864 0.04134
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955 0.02902
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=) rs74032865 0.02534
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=) rs150233193 0.02319
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg) rs3812951 0.02265
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys) rs116072997 0.02164
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=) rs60462217 0.02154
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu) rs115183769 0.02140
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=) rs76442115 0.02017
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg) rs75136873 0.02017
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg) rs77490207 0.01795
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=) rs111986360 0.01774
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=) rs115790991 0.01614
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr) rs57052487 0.01385
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.8121G>A (p.Ala2707=) rs116696830 0.01217
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=) rs74384633 0.01153
NM_001367624.2(ZNF469):c.6032G>A (p.Gly2011Asp) rs79155191 0.01148
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918 0.01110
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=) rs117310292 0.00992
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu) rs141776185 0.00951
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=) rs140480823 0.00931
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=) rs141666432 0.00893
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=) rs147859144 0.00882
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val) rs116532825 0.00765
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796 0.00752
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro) rs150488251 0.00706
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247 0.00605
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062 0.00587
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp) rs199519673 0.00279
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524 0.00258
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys) rs117995699 0.00222
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met) rs202188220 0.00214
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=) rs558108271 0.00208
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr) rs540655479 0.00166
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00140
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362 0.00080
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=) rs273585636 0.00052
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=) rs763826959 0.00045
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr) rs199528724
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=) rs78022634
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del) rs555544144
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=) rs12919507

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