ClinVar Miner

Variants in gene ABCB11 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
449 46 0 16 38 1 2 55

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 other
pathogenic 0 4 0 0 0 0
likely pathogenic 4 0 2 0 0 0
uncertain significance 0 2 0 31 9 0
likely benign 0 0 31 0 12 0
benign 0 0 9 12 0 1
other 0 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 55
Download table as spreadsheet
HGVS dbSNP
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=) rs183390670
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=) rs140138979
NM_003742.4(ABCB11):c.126C>T (p.Gly42=) rs138800291
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=) rs11568360
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058
NM_003742.4(ABCB11):c.156G>A (p.Arg52=) rs140587295
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr) rs886043807
NM_003742.4(ABCB11):c.174C>T (p.Asp58=) rs11568362
NM_003742.4(ABCB11):c.2012-8T>G rs769910565
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=) rs776223452
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg) rs763782349
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.2523G>A (p.Gly841=) rs367874361
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=) rs1014304470
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635
NM_003742.4(ABCB11):c.2655C>T (p.Asn885=) rs756738723
NM_003742.4(ABCB11):c.279C>T (p.Tyr93=) rs375137002
NM_003742.4(ABCB11):c.280G>A (p.Asp94Asn) rs760920706
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) rs192375476
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=) rs201881755
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) rs199940188
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664
NM_003742.4(ABCB11):c.2985G>A (p.Ala995=) rs113923887
NM_003742.4(ABCB11):c.3214-6C>G rs750991541
NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=) rs750944055
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His) rs756220860
NM_003742.4(ABCB11):c.3411+10G>A rs188996270
NM_003742.4(ABCB11):c.3411+9C>T rs201287126
NM_003742.4(ABCB11):c.3435A>G (p.Lys1145=) rs11568366
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr) rs200709879
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr) rs143484849
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808
NM_003742.4(ABCB11):c.3766-10C>T rs369104228
NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=) rs773371540
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630
NM_003742.4(ABCB11):c.477+8G>T rs745477056
NM_003742.4(ABCB11):c.477A>G (p.Gln159=) rs191042013
NM_003742.4(ABCB11):c.48G>A (p.Glu16=) rs768192083
NM_003742.4(ABCB11):c.711G>A (p.Arg237=) rs765070028
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) rs369671177
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) rs200739891
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617
NM_003742.4(ABCB11):c.930C>T (p.Phe310=) rs372382608

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