ClinVar Miner

Variants with conflicting interpretations studied for APOB-related condition

Minimum review status of the submission for APOB-related condition: Collection method of the submission for APOB-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
20 50 0 23 16 0 1 34

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
APOB-related condition uncertain significance likely benign benign
likely pathogenic 1 0 0
uncertain significance 0 5 4
likely benign 9 0 18
benign 1 5 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 32 0 9 10 0 1 20
not specified 0 8 0 11 5 0 1 17
Cardiovascular phenotype 0 63 0 7 7 0 1 15

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.905-15C>G rs72653061 0.00554
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_000384.3(APOB):c.13369G>A (p.Asp4457Asn) rs183812948 0.00250
NM_000384.3(APOB):c.1785C>G (p.Ser595=) rs139864087 0.00247
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079 0.00240
NM_000384.3(APOB):c.7242A>C (p.Glu2414Asp) rs72653091 0.00222
NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys) rs61743313 0.00198
NM_000384.3(APOB):c.751G>A (p.Ala251Thr) rs61741625 0.00190
NM_000384.3(APOB):c.905-16A>C rs12720810 0.00172
NM_000384.3(APOB):c.11819C>T (p.Thr3940Met) rs72654416 0.00161
NM_000384.3(APOB):c.9294C>T (p.Tyr3098=) rs145777339 0.00139
NM_000384.3(APOB):c.12699G>A (p.Ser4233=) rs56675344 0.00136
NM_000384.3(APOB):c.2068-4T>A rs41291161 0.00108
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr) rs61742247 0.00093
NM_000384.3(APOB):c.12903C>T (p.Asp4301=) rs200145506 0.00090
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val) rs143282164 0.00073
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164 0.00071
NM_000384.3(APOB):c.895T>G (p.Phe299Val) rs72653060 0.00051
NM_000384.3(APOB):c.10476T>A (p.Ile3492=) rs139929439 0.00021
NM_000384.3(APOB):c.11542G>A (p.Ala3848Thr) rs61743512 0.00012
NM_000384.3(APOB):c.8877G>A (p.Leu2959=) rs765899256 0.00012
NM_000384.3(APOB):c.2047G>T (p.Ala683Ser) rs761947252 0.00004
NM_000384.3(APOB):c.3034G>A (p.Glu1012Lys) rs575505383 0.00003
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser)
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.49CTG[8] (p.Leu21_Leu22dup) rs745520533
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.9242G>A (p.Ser3081Asn) rs72653100

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