ClinVar Miner

Variants in gene MKS1 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 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
403 29 2 16 12 0 4 28

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 9 3 0 0
likely pathogenic 9 2 2 0 0
uncertain significance 3 2 0 10 4
likely benign 0 0 10 0 7
benign 0 0 4 7 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
NM_001321268.2(MKS1):c.-328_-322del rs386834046
NM_001321269.2(MKS1):c.1388G>A (p.Arg463Gln) rs201619500
NM_001321269.2(MKS1):c.1408-125_1408-122dup rs386834044
NM_017777.3(MKS1):c.1014G>A (p.Leu338=) rs201998680
NM_017777.3(MKS1):c.1024+1G>A rs199874059
NM_017777.3(MKS1):c.1128G>A (p.Thr376=) rs369141016
NM_017777.3(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.3(MKS1):c.1436G>A (p.Arg479His) rs111315726
NM_017777.3(MKS1):c.1601G>A (p.Arg534Gln) rs199910690
NM_017777.3(MKS1):c.1609C>T (p.Arg537Cys) rs35464956
NM_017777.3(MKS1):c.1671G>C (p.Leu557=) rs11548967
NM_017777.3(MKS1):c.191-44G>A rs73329636
NM_017777.3(MKS1):c.213C>G (p.Asp71Glu) rs142813109
NM_017777.3(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.3(MKS1):c.261+7C>T rs200156751
NM_017777.3(MKS1):c.27C>T (p.Asp9=) rs369488349
NM_017777.3(MKS1):c.368G>A (p.Arg123Gln) rs202112856
NM_017777.3(MKS1):c.468C>T (p.Val156=) rs199684837
NM_017777.3(MKS1):c.508C>T (p.Arg170Ter) rs756853299
NM_017777.3(MKS1):c.515+1G>A rs201933838
NM_017777.3(MKS1):c.516-10T>C rs375046501
NM_017777.3(MKS1):c.80+2T>C rs386834052
NM_017777.3(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.3(MKS1):c.857A>G (p.Asp286Gly) rs151023718
NM_017777.3(MKS1):c.858+9A>G rs3826300
NM_017777.3(MKS1):c.874A>G (p.Lys292Glu) rs201845569
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048

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