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 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
361 29 1 11 1 0 26 36

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 9 12 6
likely pathogenic 10 0 1 0 0
uncertain significance 9 1 0 1 0
likely benign 12 0 1 1 1
benign 6 0 0 1 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
NM_001171.5(ABCC6):c.1077A>G (p.Ser359=) rs72664283
NM_001171.5(ABCC6):c.1141T>C (p.Leu381=) rs72664284
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.1263C>T (p.Thr421=) rs114179357
NM_001171.5(ABCC6):c.1868-5T>G rs72664207
NM_001171.5(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125
NM_001171.5(ABCC6):c.2247+22T>G rs72664298
NM_001171.5(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794
NM_001171.5(ABCC6):c.2428G>A (p.Val810Met) rs72653795
NM_001171.5(ABCC6):c.2820T>G (p.Arg940=) rs72664286
NM_001171.5(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537
NM_001171.5(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689
NM_001171.5(ABCC6):c.2861_2866delTCCTCT (p.Phe954_Leu955del) rs767359198
NM_001171.5(ABCC6):c.2904G>A (p.Leu968=) rs72664287
NM_001171.5(ABCC6):c.3143_3145delTCT (p.Phe1048del) rs769437554
NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459
NM_001171.5(ABCC6):c.3398G>C (p.Gly1133Ala) rs63750473
NM_001171.5(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457
NM_001171.5(ABCC6):c.3507-3C>T rs41278172
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.3871G>A (p.Ala1291Thr) rs58694313
NM_001171.5(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086
NM_001171.5(ABCC6):c.4016G>A (p.Arg1339His) rs63750622
NM_001171.5(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428
NM_001171.5(ABCC6):c.4081G>A (p.Asp1361Asn) rs58695352
NM_001171.5(ABCC6):c.4253G>A (p.Arg1418Gln) rs63751262
NM_001171.5(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524
NM_001171.5(ABCC6):c.487G>A (p.Asp163Asn) rs192110266
NM_001171.5(ABCC6):c.496C>T (p.Arg166Cys) rs201766106
NM_001171.5(ABCC6):c.662+12C>T rs1555520951
NM_001171.5(ABCC6):c.742C>T (p.Leu248Phe) rs72653756
NM_001171.5(ABCC6):c.754C>T (p.Leu252Phe) rs72653757
NM_001171.5(ABCC6):c.793A>G (p.Arg265Gly) rs72657698
NM_001171.5(ABCC6):c.841A>G (p.Lys281Glu) rs879274205
NM_001171.5(ABCC6):c.855C>T (p.Thr285=) rs4780605
NM_001171.5(ABCC6):c.955A>G (p.Ile319Val) rs72657699

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