ClinVar Miner

Variants in gene SKI with conflicting interpretations

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
951 59 0 34 25 0 2 58

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 4 0 0 0
likely pathogenic 4 0 2 0 0
uncertain significance 0 2 0 24 4
likely benign 0 0 24 0 30
benign 0 0 4 30 0

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 0.00270
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871 0.00167
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_003036.4(SKI):c.1338C>T (p.Leu446=) rs148632347 0.00130
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646 0.00091
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401 0.00076
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_003036.4(SKI):c.1308C>T (p.Ala436=) rs139034124 0.00064
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr) rs61735580 0.00056
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_003036.4(SKI):c.1767+9G>C rs181520853 0.00028
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp) rs201613746 0.00024
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890 0.00023
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396 0.00016
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718 0.00011
NM_003036.4(SKI):c.1329C>T (p.Pro443=) rs150033567 0.00011
NM_003036.4(SKI):c.2141G>A (p.Arg714His) rs754486257 0.00010
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) rs730880212 0.00009
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705 0.00009
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_003036.4(SKI):c.1211+10C>T rs200242660 0.00006
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753 0.00006
NM_003036.4(SKI):c.1212-8C>T rs370921440 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077 0.00004
NM_003036.4(SKI):c.138C>T (p.Ala46=) rs745527890 0.00004
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_003036.4(SKI):c.1573G>A (p.Val525Ile) rs141961299 0.00003
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502 0.00003
NM_003036.4(SKI):c.970-7A>G rs199634070 0.00003
NM_003036.4(SKI):c.1211+17C>T rs753878221 0.00002
NM_003036.4(SKI):c.1400C>T (p.Thr467Met) rs752151031 0.00002
NM_003036.4(SKI):c.2013G>A (p.Gln671=) rs1040803635 0.00002
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207 0.00001
NM_003036.4(SKI):c.2092C>T (p.Leu698=) rs766929334 0.00001
NM_003036.4(SKI):c.405G>T (p.Ser135=) rs769774481 0.00001
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln) rs557289756
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003036.4(SKI):c.352G>A (p.Glu118Lys) rs869025525
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722

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