ClinVar Miner

Variants with conflicting interpretations studied for Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1

Coded as:
Minimum review status of the submission for Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1: Y axis collection method of the submission for Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1:
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 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
102 57 0 90 84 0 8 129

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
Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 2 0 0
uncertain significance 2 2 0 3 1
likely benign 0 0 29 0 1
benign 2 1 52 87 0

Condition to condition summary #

Total conditions: 9
Download table as spreadsheet
Condition 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
Familial hypercholesterolemia 0 16 0 68 76 0 6 112
Familial hypobetalipoproteinemia 0 3 0 28 31 0 1 60
not specified 0 33 0 29 13 0 1 40
Familial hypercholesterolemias 0 117 0 29 6 0 0 35
not provided 0 27 0 2 8 0 0 10
Hypercholesterolemia, autosomal dominant, type B 0 2 0 0 2 0 1 3
Hypobetalipoproteinemia, familial, 1 0 1 0 1 2 0 0 3
Hypercholesterolemia 0 1 0 0 1 0 0 1
Hypobetalipoproteinemia 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 129
Download table as spreadsheet
HGVS dbSNP
NM_000384.2(APOB):c.10061C>G (p.Ala3354Gly) rs61742331
NM_000384.2(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.2(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000384.2(APOB):c.10520G>C (p.Arg3507Pro) rs201156840
NM_000384.2(APOB):c.10575C>T (p.Ser3525=) rs142573551
NM_000384.2(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.2(APOB):c.10672C>T (p.Arg3558Cys) rs12713559
NM_000384.2(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.2(APOB):c.10737C>T (p.Thr3579=) rs12713554
NM_000384.2(APOB):c.10780T>C (p.Trp3594Arg) rs61744288
NM_000384.2(APOB):c.11257T>C (p.Phe3753Leu) rs61741974
NM_000384.2(APOB):c.11354C>T (p.Thr3785Ile) rs143710616
NM_000384.2(APOB):c.11401T>A (p.Ser3801Thr) rs12713540
NM_000384.2(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.2(APOB):c.11568C>T (p.Ile3856=) rs542175556
NM_000384.2(APOB):c.11761G>A (p.Val3921Ile) rs72654409
NM_000384.2(APOB):c.11808C>T (p.Ile3936=) rs12720852
NM_000384.2(APOB):c.11819C>T (p.Thr3940Met) rs72654416
NM_000384.2(APOB):c.11833A>G (p.Thr3945Ala) rs1801698
NM_000384.2(APOB):c.11904-7C>T rs12720851
NM_000384.2(APOB):c.11911G>A (p.Glu3971Lys) rs373477107
NM_000384.2(APOB):c.1199G>A (p.Arg400His) rs530171166
NM_000384.2(APOB):c.12016G>A (p.Val4006Ile) rs183117027
NM_000384.2(APOB):c.1223T>C (p.Ile408Thr) rs12714225
NM_000384.2(APOB):c.12252T>C (p.Tyr4084=) rs138157751
NM_000384.2(APOB):c.12310C>A (p.Leu4104Met) rs199668351
NM_000384.2(APOB):c.12318A>G (p.Arg4106=) rs375795401
NM_000384.2(APOB):c.12382G>A (p.Val4128Met) rs1801703
NM_000384.2(APOB):c.12444C>A (p.Ala4148=) rs757789853
NM_000384.2(APOB):c.12697T>A (p.Ser4233Thr) rs61743299
NM_000384.2(APOB):c.12699G>A (p.Ser4233=) rs56675344
NM_000384.2(APOB):c.12766G>A (p.Glu4256Lys) rs61743313
NM_000384.2(APOB):c.12794T>C (p.Val4265Ala) rs61743502
NM_000384.2(APOB):c.12803T>C (p.Met4268Thr) rs72654422
NM_000384.2(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.2(APOB):c.12903C>T (p.Asp4301=) rs200145506
NM_000384.2(APOB):c.12940A>G (p.Ile4314Val) rs72654423
NM_000384.2(APOB):c.129G>C (p.Ala43=) rs12720850
NM_000384.2(APOB):c.13102C>G (p.Gln4368Glu) rs72654424
NM_000384.2(APOB):c.1310G>A (p.Arg437His) rs142114415
NM_000384.2(APOB):c.13441G>A (p.Ala4481Thr) rs1801695
NM_000384.2(APOB):c.13449G>A (p.Ala4483=) rs138421941
NM_000384.2(APOB):c.13451C>T (p.Thr4484Met) rs12713450
NM_000384.2(APOB):c.13480_13482delCAG (p.Gln4494del) rs562574661
NM_000384.2(APOB):c.13680T>C (p.Thr4560=) rs72654427
NM_000384.2(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.2(APOB):c.1648G>C (p.Asp550His) rs145862664
NM_000384.2(APOB):c.1661C>T (p.Pro554Leu) rs12714214
NM_000384.2(APOB):c.1785C>G (p.Ser595=) rs139864087
NM_000384.2(APOB):c.2068-4T>A rs41291161
NM_000384.2(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.2(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.2(APOB):c.2244+3G>A rs12714189
NM_000384.2(APOB):c.2585T>C (p.Val862Ala) rs145142090
NM_000384.2(APOB):c.2630C>T (p.Pro877Leu) rs12714097
NM_000384.2(APOB):c.2706C>T (p.Asn902=) rs1801700
NM_000384.2(APOB):c.2823A>G (p.Thr941=) rs200868559
NM_000384.2(APOB):c.2853G>A (p.Glu951=) rs151193347
NM_000384.2(APOB):c.285C>A (p.Ser95Arg) rs143613534
NM_000384.2(APOB):c.2863C>T (p.Pro955Ser) rs13306206
NM_000384.2(APOB):c.288G>T (p.Gln96His) rs186544754
NM_000384.2(APOB):c.2981C>T (p.Pro994Leu) rs41288783
NM_000384.2(APOB):c.3034G>A (p.Glu1012Lys) rs575505383
NM_000384.2(APOB):c.307T>C (p.Tyr103His) rs9282603
NM_000384.2(APOB):c.3122-6G>A rs72653071
NM_000384.2(APOB):c.3178T>C (p.Leu1060=) rs72653073
NM_000384.2(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.2(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.2(APOB):c.3426G>A (p.Ser1142=) rs142448733
NM_000384.2(APOB):c.3427C>T (p.Pro1143Ser) rs72653077
NM_000384.2(APOB):c.3471T>C (p.Tyr1157=) rs201128198
NM_000384.2(APOB):c.3509-10G>A rs12720770
NM_000384.2(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.2(APOB):c.3712C>A (p.Leu1238Ile) rs72653078
NM_000384.2(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164
NM_000384.2(APOB):c.3843C>T (p.Ser1281=) rs72653079
NM_000384.2(APOB):c.4163G>A (p.Arg1388His) rs13306187
NM_000384.2(APOB):c.4178C>T (p.Ala1393Val) rs143282164
NM_000384.2(APOB):c.433C>T (p.Pro145Ser) rs6752026
NM_000384.2(APOB):c.4365C>T (p.Phe1455=) rs12720847
NM_000384.2(APOB):c.4449A>G (p.Glu1483=) rs151018874
NM_000384.2(APOB):c.4656T>C (p.Ser1552=) rs761580028
NM_000384.2(APOB):c.4825T>C (p.Leu1609=) rs72653083
NM_000384.2(APOB):c.5066G>A (p.Arg1689His) rs151009667
NM_000384.2(APOB):c.5322C>T (p.Tyr1774=) rs13306188
NM_000384.2(APOB):c.538-9C>T rs1800478
NM_000384.2(APOB):c.5741A>G (p.Asn1914Ser) rs1801699
NM_000384.2(APOB):c.5763A>G (p.Gly1921=) rs141022509
NM_000384.2(APOB):c.5768A>G (p.His1923Arg) rs533617
NM_000384.2(APOB):c.581C>T (p.Thr194Met) rs13306198
NM_000384.2(APOB):c.5913G>A (p.Leu1971=) rs374251542
NM_000384.2(APOB):c.606A>T (p.Glu202Asp) rs61746672
NM_000384.2(APOB):c.607A>G (p.Ile203Val) rs72653059
NM_000384.2(APOB):c.6136G>A (p.Val2046Ile) rs72653084
NM_000384.2(APOB):c.61_66dup (p.Leu22_Ala23insLeuLeu) rs745520533
NM_000384.2(APOB):c.6261C>A (p.Thr2087=) rs61744855
NM_000384.2(APOB):c.6639_6641delTGA (p.Asp2213del) rs541497967
NM_000384.2(APOB):c.6656G>A (p.Arg2219His) rs200106845
NM_000384.2(APOB):c.6895G>C (p.Asp2299His) rs12713681
NM_000384.2(APOB):c.6936C>T (p.Asp2312=) rs1041968
NM_000384.2(APOB):c.6937G>A (p.Val2313Ile) rs584542
NM_000384.2(APOB):c.7242A>C (p.Glu2414Asp) rs72653091
NM_000384.2(APOB):c.7285T>A (p.Ser2429Thr) rs72653092
NM_000384.2(APOB):c.7367C>A (p.Ala2456Asp) rs12713675
NM_000384.2(APOB):c.751G>A (p.Ala251Thr) rs61741625
NM_000384.2(APOB):c.7612C>T (p.Leu2538=) rs72653093
NM_000384.2(APOB):c.7615G>A (p.Val2539Ile) rs148170480
NM_000384.2(APOB):c.7619G>T (p.Gly2540Val) rs571626569
NM_000384.2(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.2(APOB):c.7989T>C (p.Ile2663=) rs199642915
NM_000384.2(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000384.2(APOB):c.8295A>G (p.Gln2765=) rs767506952
NM_000384.2(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.2(APOB):c.8462C>T (p.Pro2821Leu) rs72653095
NM_000384.2(APOB):c.8469T>C (p.Ala2823=) rs531216195
NM_000384.2(APOB):c.8889C>T (p.Ile2963=) rs72653097
NM_000384.2(APOB):c.8912A>C (p.Asn2971Thr) rs72653098
NM_000384.2(APOB):c.9004C>T (p.Leu3002=) rs12713600
NM_000384.2(APOB):c.9105T>C (p.Asn3035=) rs147510760
NM_000384.2(APOB):c.9140C>G (p.Thr3047Arg) rs61742323
NM_000384.2(APOB):c.9175C>T (p.Arg3059Cys) rs146377316
NM_000384.2(APOB):c.9294C>T (p.Tyr3098=) rs145777339
NM_000384.2(APOB):c.9477G>A (p.Lys3159=) rs13306196
NM_000384.2(APOB):c.9639C>A (p.Asn3213Lys) rs574725520
NM_000384.2(APOB):c.9835A>G (p.Ser3279Gly) rs12720854
NM_000384.2(APOB):c.9855C>T (p.Ile3285=) rs72654403
NM_000384.2(APOB):c.9880T>C (p.Ser3294Pro) rs12720855
NM_000384.2(APOB):c.9883T>C (p.Tyr3295His) rs186299244

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