ClinVar Miner

Variants in gene STXBP1 with conflicting interpretations

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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 Variants with at least 2 submissions 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 kind of conflict
267 27 0 29 11 0 3 37

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 7 2 0 0
likely pathogenic 7 0 3 0 0
uncertain significance 2 3 0 9 6
likely benign 0 0 9 0 22
benign 0 0 6 22 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_001032221.3(STXBP1):c.38-3T>C rs138763389
NM_001032221.3(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_003165.3(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_003165.3(STXBP1):c.1111-2A>G rs1554778417
NM_003165.3(STXBP1):c.1256C>T (p.Thr419Met) rs748965227
NM_003165.3(STXBP1):c.1320C>T (p.Ile440=) rs370249358
NM_003165.3(STXBP1):c.1351G>A (p.Val451Ile) rs150259704
NM_003165.3(STXBP1):c.1356C>T (p.Thr452=) rs35099393
NM_003165.3(STXBP1):c.1359+15C>T rs374034782
NM_003165.3(STXBP1):c.1385C>T (p.Pro462Leu) rs752394761
NM_003165.3(STXBP1):c.1404C>A (p.Ile468=) rs777499631
NM_003165.3(STXBP1):c.1548-7T>C rs534556046
NM_003165.3(STXBP1):c.1548-7_1548-4delTTCT rs796053349
NM_003165.3(STXBP1):c.1548C>T (p.Ser516=) rs145304925
NM_003165.3(STXBP1):c.1662C>T (p.Tyr554=) rs142595450
NM_003165.3(STXBP1):c.1680C>T (p.Asn560=) rs201809337
NM_003165.3(STXBP1):c.1702+10C>T rs147607230
NM_003165.3(STXBP1):c.1789G>A (p.Asp597Asn) rs749807465
NM_003165.3(STXBP1):c.247-8A>G rs199827018
NM_003165.3(STXBP1):c.250G>A (p.Val84Ile) rs34830702
NM_003165.3(STXBP1):c.255C>T (p.His85=) rs768884290
NM_003165.3(STXBP1):c.281C>T (p.Pro94Leu) rs200802985
NM_003165.3(STXBP1):c.325+2_325+3del rs1554776853
NM_003165.3(STXBP1):c.325+8C>T rs117372398
NM_003165.3(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_003165.3(STXBP1):c.430-9C>T rs748770943
NM_003165.3(STXBP1):c.627C>T (p.Leu209=) rs567071026
NM_003165.3(STXBP1):c.6C>A (p.Ala2=) rs144094037
NM_003165.3(STXBP1):c.6C>T (p.Ala2=) rs144094037
NM_003165.3(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_003165.3(STXBP1):c.807C>T (p.Ser269=) rs561329680
NM_003165.3(STXBP1):c.846C>T (p.Asp282=) rs58889246
NM_003165.3(STXBP1):c.87+1G>A rs796053350
NM_003165.3(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003165.3(STXBP1):c.888C>T (p.Ile296=) rs201302013
NM_003165.3(STXBP1):c.902+9C>A rs200737004
NM_003165.3(STXBP1):c.903-4C>G rs369625158

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