ClinVar Miner

Variants in gene SLC12A6 with conflicting interpretations

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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
1300 75 0 28 24 0 1 50

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 1 0 0
likely pathogenic 11 0 0 0 0
uncertain significance 1 0 0 24 3
likely benign 0 0 24 0 17
benign 0 0 3 17 0

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.1492+45C>T rs10851964 0.60740
NM_001365088.1(SLC12A6):c.271+41G>C rs347836 0.46169
NM_001365088.1(SLC12A6):c.1333+20G>T rs2290941 0.16150
NM_001365088.1(SLC12A6):c.2803-25T>C rs17817806 0.16133
NM_001365088.1(SLC12A6):c.1944-26C>T rs34807905 0.03484
NM_001365088.1(SLC12A6):c.2042+32C>A rs79436830 0.02352
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=) rs145186782 0.00836
NM_001365088.1(SLC12A6):c.2925G>A (p.Val975=) rs112835706 0.00711
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=) rs116086579 0.00575
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_001365088.1(SLC12A6):c.271+17825C>T rs150751809 0.00276
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001365088.1(SLC12A6):c.528A>G (p.Lys176=) rs150922818 0.00063
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=) rs145615604 0.00062
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=) rs149640638 0.00061
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser) rs199945338 0.00034
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=) rs145775351 0.00028
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys) rs77122016 0.00023
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=) rs142496698 0.00020
NM_001365088.1(SLC12A6):c.1417A>G (p.Asn473Asp) rs370477960 0.00019
NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His) rs375887656 0.00016
NM_001365088.1(SLC12A6):c.319G>A (p.Asp107Asn) rs781088641 0.00011
NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser) rs778821191 0.00007
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=) rs146902000 0.00007
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs) rs776790336 0.00005
NM_001365088.1(SLC12A6):c.1008C>T (p.Gly336=) rs770742608 0.00004
NM_001365088.1(SLC12A6):c.1005C>T (p.Ile335=) rs35855196 0.00003
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg) rs369793136 0.00003
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229 0.00003
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=) rs562984167 0.00002
NM_001365088.1(SLC12A6):c.576C>T (p.Tyr192=) rs774081365 0.00002
NM_001365088.1(SLC12A6):c.849C>T (p.Tyr283=) rs753466496 0.00002
NM_001365088.1(SLC12A6):c.1707A>G (p.Pro569=) rs764272139 0.00001
NM_001365088.1(SLC12A6):c.2043-2A>G rs1372841592 0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 0.00001
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter) rs199747285 0.00001
NM_001365088.1(SLC12A6):c.964G>A (p.Gly322Ser) rs75235010 0.00001
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.1493-13del rs748657003
NM_001365088.1(SLC12A6):c.1551G>A (p.Pro517=) rs17236798
NM_001365088.1(SLC12A6):c.1650-7T>C rs752125669
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_001365088.1(SLC12A6):c.2163A>C (p.Gly721=)
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365088.1(SLC12A6):c.294_295del (p.Glu100fs) rs1292460656
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.317-5del rs747243268
NM_001365088.1(SLC12A6):c.411+10del rs377536268
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs) rs775111365
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157

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