ClinVar Miner

Variants in gene SLC2A1 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 Variants with at least 2 submissions 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 kind of conflict
224 90 0 26 26 2 2 48

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 risk factor
pathogenic 0 6 1 0 0 2
likely pathogenic 6 0 1 0 0 1
uncertain significance 1 1 0 19 14 0
likely benign 0 0 19 0 20 0
benign 0 0 14 20 0 0
risk factor 2 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 48
Download table as spreadsheet
HGVS dbSNP
NM_006516.2(SLC2A1):c.-26G>C rs375001117
NM_006516.2(SLC2A1):c.-2C>T rs587784388
NM_006516.2(SLC2A1):c.18+12G>T rs587781171
NM_006516.2(SLC2A1):c.18G>A (p.Lys6=) rs577329624
NM_006516.2(SLC2A1):c.972+7delC rs531385270
NM_006516.3(SLC2A1):c.1005C>G (p.Thr335=) rs763664146
NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735
NM_006516.3(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.3(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554
NM_006516.3(SLC2A1):c.1155C>T (p.Pro385=) rs76860965
NM_006516.3(SLC2A1):c.1170C>T (p.Ile390=) rs2236574
NM_006516.3(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205
NM_006516.3(SLC2A1):c.1372C>A (p.Arg458=) rs13306758
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=) rs75852730
NM_006516.3(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.3(SLC2A1):c.1408G>C (p.Gly470Arg) rs572648977
NM_006516.3(SLC2A1):c.1437C>T (p.Pro479=) rs146879902
NM_006516.3(SLC2A1):c.19-207T>C rs41310434
NM_006516.3(SLC2A1):c.19-5C>T rs376653618
NM_006516.3(SLC2A1):c.258C>T (p.Phe86=) rs147319894
NM_006516.3(SLC2A1):c.274C>A (p.Arg92=) rs202060209
NM_006516.3(SLC2A1):c.276-7T>C rs369273744
NM_006516.3(SLC2A1):c.276-9C>T rs529579952
NM_006516.3(SLC2A1):c.27G>A (p.Thr9=) rs34025424
NM_006516.3(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402
NM_006516.3(SLC2A1):c.313G>A (p.Val105Met) rs577667739
NM_006516.3(SLC2A1):c.321C>T (p.Ala107=) rs398124230
NM_006516.3(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.3(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006516.3(SLC2A1):c.417C>T (p.Phe139=) rs144538918
NM_006516.3(SLC2A1):c.498C>T (p.Val166=) rs150971143
NM_006516.3(SLC2A1):c.507C>T (p.Leu169=) rs115541691
NM_006516.3(SLC2A1):c.543C>T (p.Gly181=) rs377674001
NM_006516.3(SLC2A1):c.679+4C>A rs139492241
NM_006516.3(SLC2A1):c.679+4C>T rs139492241
NM_006516.3(SLC2A1):c.679+7G>T rs13306757
NM_006516.3(SLC2A1):c.680-10G>T rs587784394
NM_006516.3(SLC2A1):c.680-11G>A rs1259158687
NM_006516.3(SLC2A1):c.694C>T (p.Arg232Cys) rs387907313
NM_006516.3(SLC2A1):c.766_767delAAinsGT (p.Lys256Val) rs80359822
NM_006516.3(SLC2A1):c.777C>T (p.Ile259=) rs78388808
NM_006516.3(SLC2A1):c.885G>A (p.Thr295=) rs144685583
NM_006516.3(SLC2A1):c.894C>T (p.Phe298=) rs140825318
NM_006516.3(SLC2A1):c.906G>T (p.Gly302=) rs55693364
NM_006516.3(SLC2A1):c.987G>A (p.Glu329=) rs201989024
NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) rs80359826
NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825

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