ClinVar Miner

Variants in gene ABCB4 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
274 24 0 11 14 0 4 24

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 3 1 0 1
likely pathogenic 3 0 3 0 1
uncertain significance 1 3 0 13 3
likely benign 0 0 13 0 8
benign 1 1 3 8 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000443.4(ABCB4):c.1119+8A>C rs1471180323
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_000443.4(ABCB4):c.1893+6T>C rs8187798
NM_000443.4(ABCB4):c.201C>T (p.His67=) rs747703354
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=) rs8187802
NM_000443.4(ABCB4):c.2395-19C>T rs45593648
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys)
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=) rs8187808
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=) rs766402494
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=) rs771437431
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=) rs752578370
NM_000443.4(ABCB4):c.3486+8dup rs8187809
NM_000443.4(ABCB4):c.456G>A (p.Lys152=) rs147333055
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_000443.4(ABCB4):c.525G>A (p.Thr175=) rs558416191
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778

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