ClinVar Miner

Variants with conflicting interpretations studied for ABCB11-related condition

Minimum review status of the submission for ABCB11-related condition: Collection method of the submission for ABCB11-related condition:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
22 36 0 20 33 0 2 47

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.

All conditions
ABCB11-related condition pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0 0
likely pathogenic 5 0 2 0 0
uncertain significance 0 0 0 8 2
likely benign 0 0 23 0 9
benign 0 0 0 3 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition 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
not provided 0 37 0 18 33 0 1 45
not specified 0 10 0 3 0 0 1 4
Familial intrahepatic cholestasis type 2 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496 0.00197
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr) rs143484849 0.00116
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608 0.00107
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) rs192375476 0.00101
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999 0.00079
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659 0.00071
NM_003742.4(ABCB11):c.383G>A (p.Arg128His) rs181533618 0.00066
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) rs199940188 0.00050
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) rs141862495 0.00040
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376 0.00039
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=) rs201881755 0.00036
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=) rs140138979 0.00032
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635 0.00029
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) rs200739891 0.00025
NM_003742.4(ABCB11):c.477A>G (p.Gln159=) rs191042013 0.00024
NM_003742.4(ABCB11):c.3170G>A (p.Arg1057Gln) rs200174512 0.00015
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn) rs200857579 0.00013
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_003742.4(ABCB11):c.2757C>A (p.Thr919=) rs374465656 0.00012
NM_003742.4(ABCB11):c.3411+9C>T rs201287126 0.00011
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln) rs200488448 0.00010
NM_003742.4(ABCB11):c.1987G>A (p.Ala663Thr) rs371319925 0.00009
NM_003742.4(ABCB11):c.2616C>T (p.Ala872=) rs528640585 0.00006
NM_003742.4(ABCB11):c.3412-7T>C rs757040670 0.00006
NM_003742.4(ABCB11):c.3214-6C>G rs750991541 0.00005
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser) rs779096015 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003742.4(ABCB11):c.126C>T (p.Gly42=) rs138800291 0.00003
NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=) rs750944055 0.00003
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_003742.4(ABCB11):c.283G>A (p.Val95Ile) rs201735739 0.00002
NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp) rs369865521 0.00001
NM_003742.4(ABCB11):c.2490G>A (p.Arg830=) rs775663263 0.00001
NM_003742.4(ABCB11):c.2628C>T (p.Ile876=) rs200127070 0.00001
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn) rs201693189 0.00001
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr) rs139641883 0.00001
NM_003742.4(ABCB11):c.1441G>A (p.Val481Met)
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs) rs1692870573
NM_003742.4(ABCB11):c.2343+1G>T rs774411820
NM_003742.4(ABCB11):c.390-1G>T rs1558917090
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617
NM_003742.4(ABCB11):c.908+1G>C rs147649016

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