ClinVar Miner

Variants in gene SLC6A8 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
354 28 2 10 5 0 1 18

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 2 1 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 5 1
likely benign 0 0 5 0 9
benign 0 0 1 9 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_005629.4(SLC6A8):c.1141+18G>A rs187400676
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832
NM_005629.4(SLC6A8):c.1570T>A (p.Ser524Thr) rs782703394
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) rs397515558
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) rs397515559
NM_005629.4(SLC6A8):c.1714G>A (p.Val572Met) rs2872524
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147
NM_005629.4(SLC6A8):c.777+4C>T rs201581661
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=) rs148232368
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933
NM_005629.4(SLC6A8):c.912+9G>A rs782694291
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=) rs782517934

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