ClinVar Miner

Variants in gene ABCC6 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
473 32 0 17 6 0 9 30

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 6 3 2 2
likely pathogenic 6 0 3 0 1
uncertain significance 3 3 0 4 3
likely benign 2 0 4 0 11
benign 2 1 3 11 0

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1
NM_001171.5(ABCC6):c.1088_1120del (p.Gln363_Arg373del) rs387906353
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.1248C>T (p.Asp416=) rs143487365
NM_001171.5(ABCC6):c.1263C>T (p.Thr421=) rs114179357
NM_001171.5(ABCC6):c.1284C>T (p.Asn428=) rs57499497
NM_001171.5(ABCC6):c.1424A>T (p.His475Leu) rs151187637
NM_001171.5(ABCC6):c.1639G>A (p.Ala547Thr) rs56877937
NM_001171.5(ABCC6):c.1815C>T (p.Leu605=) rs61318127
NM_001171.5(ABCC6):c.1967_1989del (p.Gly656fs) rs74315130
NM_001171.5(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788
NM_001171.5(ABCC6):c.2695C>T (p.Arg899Cys) rs11861980
NM_001171.5(ABCC6):c.3064C>G (p.Gln1022Glu) rs57179857
NM_001171.5(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174
NM_001171.5(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953
NM_001171.5(ABCC6):c.346-6G>A rs55778939
NM_001171.5(ABCC6):c.3712G>C (p.Asp1238His) rs63749796
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.3883-24G>A rs59513011
NM_001171.5(ABCC6):c.3883-6G>A rs72664214
NM_001171.5(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086
NM_001171.5(ABCC6):c.3961G>A (p.Gly1321Ser) rs63749823
NM_001171.5(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428
NM_001171.5(ABCC6):c.4209-2A>C rs1555506740
NM_001171.5(ABCC6):c.4254G>A (p.Arg1418=) rs58668703
NM_001171.5(ABCC6):c.496C>T (p.Arg166Cys) rs201766106
NM_001171.5(ABCC6):c.600+23C>T rs72664290
NM_001171.5(ABCC6):c.742C>T (p.Leu248Phe) rs72653756
NM_001171.5(ABCC6):c.793A>G (p.Arg265Gly) rs72657698
NM_001171.5(ABCC6):c.955A>G (p.Ile319Val) rs72657699

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