ClinVar Miner

Variants in gene DSC2 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
672 55 0 30 34 0 5 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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 0
likely pathogenic 3 0 4 0 0
uncertain significance 1 4 0 31 10
likely benign 0 0 31 0 27
benign 0 0 10 27 0

All variants with conflicting interpretations #

Total variants: 55
Download table as spreadsheet
NM_024422.6(DSC2):c.1070G>A (p.Arg357His) rs201201194
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.1269G>A (p.Leu423=) rs376049846
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.135C>T (p.Ala45=) rs749323567
NM_024422.6(DSC2):c.1401G>A (p.Glu467=) rs977781359
NM_024422.6(DSC2):c.1521-7C>T rs374810953
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) rs140232809
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_024422.6(DSC2):c.2208C>T (p.Asn736=) rs727504534
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) rs755276378
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) rs143413607
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.371A>G (p.His124Arg) rs794728061
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481
NM_024422.6(DSC2):c.474+5C>T rs397517400
NM_024422.6(DSC2):c.561T>C (p.Tyr187=)
NM_024422.6(DSC2):c.608G>A (p.Arg203His) rs758527425
NM_024422.6(DSC2):c.631-13dup rs551337657
NM_024422.6(DSC2):c.631-2A>G rs397514042
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024422.6(DSC2):c.943-1G>A rs796756333

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