ClinVar Miner

Variants in gene SLC12A3 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
163 14 1 20 2 0 5 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 7 4 0 0
likely pathogenic 7 0 2 0 0
uncertain significance 4 2 1 1 1
likely benign 0 0 1 0 13
benign 0 0 1 13 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_000339.3(SLC12A3):c.1023C>T (p.Phe341=) rs2229209
NM_000339.3(SLC12A3):c.1046C>T (p.Pro349Leu) rs121909383
NM_000339.3(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823
NM_000339.3(SLC12A3):c.1392C>A (p.Ala464=) rs118121751
NM_000339.3(SLC12A3):c.1395C>T (p.Thr465=) rs5801
NM_000339.3(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986
NM_000339.3(SLC12A3):c.1825+9C>A rs35797045
NM_000339.3(SLC12A3):c.1865A>G (p.Asn622Ser) rs61746763
NM_000339.3(SLC12A3):c.1884G>A (p.Ser628=) rs5802
NM_000339.3(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781
NM_000339.3(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
NM_000339.3(SLC12A3):c.2142C>T (p.Ala714=) rs5803
NM_000339.3(SLC12A3):c.2179-8C>T rs13306676
NM_000339.3(SLC12A3):c.2191G>A (p.Gly731Arg)
NM_000339.3(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195
NM_000339.3(SLC12A3):c.2310C>T (p.Gly770=) rs375542454
NM_000339.3(SLC12A3):c.249G>T (p.Arg83=) rs76750525
NM_000339.3(SLC12A3):c.2573T>A (p.Leu858His) rs185927948
NM_000339.3(SLC12A3):c.2576T>C (p.Leu859Pro) rs121909379
NM_000339.3(SLC12A3):c.2625C>T (p.Gly875=) rs5804
NM_000339.3(SLC12A3):c.2738G>A (p.Arg913Gln) rs11643718
NM_000339.3(SLC12A3):c.2748-13T>C rs34772420
NM_000339.3(SLC12A3):c.2782C>T (p.Arg928Cys) rs12708965
NM_000339.3(SLC12A3):c.2891G>A (p.Arg964Gln) rs202114767
NM_000339.3(SLC12A3):c.2965G>A (p.Gly989Arg)
NM_000339.3(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606
NM_000339.3(SLC12A3):c.366A>G (p.Ala122=) rs2304479

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