ClinVar Miner

Variants in gene SLC10A2 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
206 55 0 10 27 0 0 35

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 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 26 3
likely benign 0 0 26 0 9
benign 0 0 3 9 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830 0.00998
NM_000452.3(SLC10A2):c.886T>C (p.Phe296Leu) rs71640248 0.00537
NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu) rs61966074 0.00285
NM_000452.3(SLC10A2):c.762-3T>C rs190734512 0.00204
NM_000452.3(SLC10A2):c.516C>T (p.Leu172=) rs114146899 0.00201
NM_000452.3(SLC10A2):c.66T>C (p.Pro22=) rs138387807 0.00112
NM_000452.3(SLC10A2):c.108G>A (p.Thr36=) rs141524545 0.00101
NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=) rs147498129 0.00094
NM_000452.3(SLC10A2):c.425C>T (p.Pro142Leu) rs117447044 0.00082
NM_000452.3(SLC10A2):c.194C>T (p.Pro65Leu) rs112657170 0.00080
NM_000452.3(SLC10A2):c.175C>T (p.Leu59=) rs150970825 0.00055
NM_000452.3(SLC10A2):c.835A>T (p.Thr279Ser) rs149096396 0.00047
NM_000452.3(SLC10A2):c.80A>G (p.Asn27Ser) rs147075283 0.00046
NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met) rs72547505 0.00045
NM_000452.3(SLC10A2):c.415G>A (p.Gly139Arg) rs200749358 0.00039
NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe) rs199553519 0.00024
NM_000452.3(SLC10A2):c.561C>G (p.Pro187=) rs139517943 0.00024
NM_000452.3(SLC10A2):c.654C>T (p.Ser218=) rs140050923 0.00010
NM_000452.3(SLC10A2):c.363C>T (p.Gly121=) rs143992162 0.00009
NM_000452.3(SLC10A2):c.870G>A (p.Pro290=) rs370310605 0.00007
NM_000452.3(SLC10A2):c.261G>A (p.Ser87=) rs200682819 0.00006
NM_000452.3(SLC10A2):c.846G>A (p.Glu282=) rs746750365 0.00004
NM_000452.3(SLC10A2):c.190C>T (p.Arg64Trp) rs142620512 0.00002
NM_000452.3(SLC10A2):c.246A>G (p.Thr82=) rs761652195 0.00002
NM_000452.3(SLC10A2):c.45T>C (p.Ser15=) rs374581163 0.00001
NM_000452.3(SLC10A2):c.753C>G (p.Pro251=) rs1172213655 0.00001
NM_000452.2(SLC10A2):c.586-4dup rs199940758
NM_000452.3(SLC10A2):c.156C>T (p.Asn52=)
NM_000452.3(SLC10A2):c.269T>C (p.Phe90Ser) rs199894506
NM_000452.3(SLC10A2):c.318C>A (p.Cys106Ter)
NM_000452.3(SLC10A2):c.39T>C (p.Val13=) rs201994393
NM_000452.3(SLC10A2):c.39T>G (p.Val13=) rs201994393
NM_000452.3(SLC10A2):c.495A>T (p.Ile165=)
NM_000452.3(SLC10A2):c.497-13_497-4del
NM_000452.3(SLC10A2):c.586-4del

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