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 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
443 50 0 19 10 0 5 31

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 10 4 0 0
likely pathogenic 10 0 3 0 0
uncertain significance 4 3 0 7 4
likely benign 0 0 7 0 9
benign 0 0 4 9 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_001126108.2(SLC12A3):c.1210G>A (p.Val404Ile) rs150358489
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) rs34216426
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=) rs142199602
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val) rs554432544
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=) rs387907471
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val) rs121909382
NM_001126108.2(SLC12A3):c.1825+5G>A rs368509876
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) rs779160677
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781
NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=) rs200091201
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg) rs36031476
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=) rs375542454
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) rs76750525
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) rs117987946
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=) rs111578437
NM_001126108.2(SLC12A3):c.791= (p.Ala264=)
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083

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