ClinVar Miner

Variants with conflicting interpretations studied for Congenital contractural arachnodactyly

Coded as:
Minimum review status of the submission for Congenital contractural arachnodactyly: Collection method of the submission for Congenital contractural arachnodactyly:
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
2084 114 0 34 53 0 4 91

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
Congenital contractural arachnodactyly pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 1 0 3 1 0
uncertain significance 0 3 0 42 11
likely benign 0 1 42 0 33
benign 0 0 11 33 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
Congenital contractural arachnodactyly 2084 114 0 34 53 0 4 91

All variants with conflicting interpretations #

Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039 0.00102
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603 0.00100
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433 0.00040
NM_001999.4(FBN2):c.4472-11A>T rs528062851 0.00034
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843 0.00018
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907 0.00017
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_001999.4(FBN2):c.2990-14C>T rs377500777 0.00012
NM_001999.4(FBN2):c.3217+13G>A rs572013507 0.00010
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931 0.00009
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757 0.00008
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=) rs368506842 0.00008
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626 0.00006
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_001999.4(FBN2):c.1078+12A>C rs769211487 0.00004
NM_001999.4(FBN2):c.1968T>C (p.Cys656=) rs750685055 0.00004
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156 0.00003
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788 0.00003
NM_001999.4(FBN2):c.2249-12T>C rs776314725 0.00003
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=) rs528529593 0.00003
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser) rs762567430 0.00003
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=) rs1482008222 0.00003
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=) rs751824761 0.00003
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545 0.00003
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr) rs769840338 0.00002
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val) rs886059902 0.00002
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser) rs555682061 0.00002
NM_001999.4(FBN2):c.2901A>G (p.Pro967=) rs185991527 0.00002
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421 0.00002
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val) rs150986564 0.00002
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702 0.00002
NM_001999.4(FBN2):c.1143G>T (p.Gly381=) rs749428195 0.00001
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr) rs750949734 0.00001
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668 0.00001
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val) rs747248488 0.00001
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=) rs1176811808 0.00001
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln) rs774411234 0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876 0.00001
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629 0.00001
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp) rs1192632165 0.00001
NM_001999.4(FBN2):c.5800+10G>A rs546373462 0.00001
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=) rs749647897 0.00001
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=) rs772832233 0.00001
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu) rs760247833 0.00001
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457 0.00001
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser) rs765867245 0.00001
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser) rs199808954 0.00001
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His) rs139620380
NM_001999.4(FBN2):c.3218-13A>T rs200543836
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu) rs1751115198
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys) rs1750918319
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr) rs137852825
NM_001999.4(FBN2):c.3974-9A>G
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys) rs1554119321
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala) rs191065419
NM_001999.4(FBN2):c.645G>T (p.Pro215=) rs764473594

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