ClinVar Miner

Variants in gene SLC37A4 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
533 61 0 16 8 0 4 27

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 11 2 0 0
likely pathogenic 11 0 2 0 0
uncertain significance 2 2 0 6 2
likely benign 0 0 6 0 5
benign 0 0 2 5 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_001164277.1(SLC37A4):c.1067G>C (p.Ser356Thr) rs547488738
NM_001164277.1(SLC37A4):c.1124-6T>C rs782323567
NM_001164277.1(SLC37A4):c.1275C>T (p.Ser425=) rs35010541
NM_001164277.1(SLC37A4):c.1A>G (p.Met1Val) rs786204740
NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976
NM_001164277.1(SLC37A4):c.467C>T (p.Ala156Val) rs201036248
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001164277.1(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.1(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644
NM_001164277.1(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881
NM_001164277.1(SLC37A4):c.611C>T (p.Ser204Phe) rs567419206
NM_001164277.1(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543
NM_001164277.1(SLC37A4):c.781G>A (p.Val261Ile) rs561701030
NM_001164277.1(SLC37A4):c.785+6A>T rs369358436
NM_001164277.1(SLC37A4):c.785-7A>G rs781887799
NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His) rs121908978
NM_001164277.1(SLC37A4):c.871-10G>A rs1555190776
NM_001164277.1(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699
NM_001164277.1(SLC37A4):c.985-8C>T rs782425309
NM_001164277.2(SLC37A4):c.1287_1290del rs1592107594
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.898C>T rs193302880
NM_001164278.2(SLC37A4):c.1309C>T (p.Arg437Ter) rs121908979
NM_001164278.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889
NM_001164279.2(SLC37A4):c.-172+96_-172+99del rs1447366650
NM_001467.6(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001467.6(SLC37A4):c.359dup (p.Cys121fs) rs1182102272

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