ClinVar Miner

Variants with conflicting interpretations studied for Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1

Coded as:
Minimum review status of the submission for Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1: Collection method of the submission for Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 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 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
2205 57 0 5 170 0 0 175

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; Familial hypobetalipoproteinemia 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 0 0 0 142 28
likely benign 0 0 142 0 2
benign 0 0 28 2 0

Condition to condition summary #

Total conditions: 1
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
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2205 57 0 5 170 0 0 175

All variants with conflicting interpretations #

Total variants: 175
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.11788+16C>T rs139704306 0.00136
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093 0.00108
NM_000384.3(APOB):c.9322G>A (p.Glu3108Lys) rs140240214 0.00033
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr) rs201736972 0.00021
NM_000384.3(APOB):c.12959T>C (p.Met4320Thr) rs377127458 0.00020
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr) rs200261177 0.00020
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val) rs142702699 0.00019
NM_000384.3(APOB):c.2937C>T (p.Gly979=) rs145649470 0.00019
NM_000384.3(APOB):c.13181T>C (p.Val4394Ala) rs12720843 0.00017
NM_000384.3(APOB):c.6969T>A (p.Asn2323Lys) rs138118085 0.00016
NM_000384.3(APOB):c.7721C>T (p.Ala2574Val) rs150843941 0.00016
NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser) rs142756262 0.00016
NM_000384.3(APOB):c.4970C>T (p.Thr1657Met) rs144239254 0.00015
NM_000384.3(APOB):c.7577T>C (p.Met2526Thr) rs373272476 0.00015
NM_000384.3(APOB):c.2914G>A (p.Gly972Ser) rs199893862 0.00014
NM_000384.3(APOB):c.6941T>C (p.Leu2314Pro) rs372035579 0.00014
NM_000384.3(APOB):c.1010T>A (p.Ile337Asn) rs148126873 0.00013
NM_000384.3(APOB):c.2611G>A (p.Ala871Thr) rs144622446 0.00013
NM_000384.3(APOB):c.3049A>C (p.Ser1017Arg) rs149323475 0.00013
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu) rs148502464 0.00012
NM_000384.3(APOB):c.5434G>T (p.Gly1812Trp) rs140174653 0.00012
NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr) rs780170292 0.00011
NM_000384.3(APOB):c.5650A>G (p.Asn1884Asp) rs146472818 0.00011
NM_000384.3(APOB):c.574G>A (p.Val192Ile) rs200662943 0.00011
NM_000384.3(APOB):c.7006G>A (p.Ala2336Thr) rs146888928 0.00011
NM_000384.3(APOB):c.7759G>C (p.Val2587Leu) rs375855688 0.00011
NM_000384.3(APOB):c.8855G>T (p.Gly2952Val) rs369472561 0.00011
NM_000384.3(APOB):c.890G>A (p.Arg297His) rs147223101 0.00011
NM_000384.3(APOB):c.1316G>A (p.Arg439Gln) rs61742990 0.00010
NM_000384.3(APOB):c.2123A>G (p.Gln708Arg) rs371190827 0.00010
NM_000384.3(APOB):c.400G>T (p.Ala134Ser) rs368321279 0.00010
NM_000384.3(APOB):c.5137G>T (p.Ala1713Ser) rs769789232 0.00010
NM_000384.3(APOB):c.10295A>G (p.Gln3432Arg) rs759043889 0.00009
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met) rs368278927 0.00009
NM_000384.3(APOB):c.11816G>A (p.Gly3939Asp) rs142828185 0.00009
NM_000384.3(APOB):c.3972G>T (p.Lys1324Asn) rs775070656 0.00009
NM_000384.3(APOB):c.2312C>T (p.Pro771Leu) rs200524554 0.00007
NM_000384.3(APOB):c.2938G>A (p.Ala980Thr) rs369310292 0.00007
NM_000384.3(APOB):c.5600G>A (p.Arg1867Gln) rs371337253 0.00007
NM_000384.3(APOB):c.6655C>T (p.Arg2219Cys) rs141641980 0.00007
NM_000384.3(APOB):c.9491C>T (p.Thr3164Met) rs143269114 0.00007
NM_000384.3(APOB):c.12677C>T (p.Thr4226Met) rs371177562 0.00006
NM_000384.3(APOB):c.3246A>C (p.Glu1082Asp) rs371987644 0.00006
NM_000384.3(APOB):c.3449T>A (p.Met1150Lys) rs146223051 0.00006
NM_000384.3(APOB):c.4421A>G (p.Lys1474Arg) rs759246439 0.00006
NM_000384.3(APOB):c.5387C>G (p.Thr1796Ser) rs529168934 0.00006
NM_000384.3(APOB):c.5560G>A (p.Asp1854Asn) rs138005301 0.00006
NM_000384.3(APOB):c.5734A>T (p.Asn1912Tyr) rs186480094 0.00006
NM_000384.3(APOB):c.6019G>A (p.Val2007Met) rs145424390 0.00006
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val) rs200034452 0.00006
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp) rs149306841 0.00006
NM_000384.3(APOB):c.8198T>C (p.Val2733Ala) rs771792572 0.00006
NM_000384.3(APOB):c.9317A>G (p.Asn3106Ser) rs546747242 0.00006
NM_000384.3(APOB):c.9407G>A (p.Arg3136His) rs199590149 0.00006
NM_000384.3(APOB):c.9493A>G (p.Thr3165Ala) rs149166048 0.00006
NM_000384.3(APOB):c.11018A>G (p.Lys3673Arg) rs374411400 0.00005
NM_000384.3(APOB):c.12581T>C (p.Ile4194Thr) rs570782024 0.00005
NM_000384.3(APOB):c.2657A>G (p.Asn886Ser) rs183398286 0.00005
NM_000384.3(APOB):c.6125T>C (p.Met2042Thr) rs371224295 0.00005
NM_000384.3(APOB):c.7057C>A (p.Gln2353Lys) rs758067709 0.00005
NM_000384.3(APOB):c.7336G>A (p.Val2446Met) rs777259835 0.00005
NM_000384.3(APOB):c.7655A>G (p.Asp2552Gly) rs779100523 0.00005
NM_000384.3(APOB):c.8297C>T (p.Ser2766Phe) rs1225631813 0.00005
NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu) rs185224477 0.00005
NM_000384.3(APOB):c.10276G>A (p.Ala3426Thr) rs753767897 0.00004
NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr) rs376825639 0.00004
NM_000384.3(APOB):c.11503A>C (p.Ile3835Leu) rs776119459 0.00004
NM_000384.3(APOB):c.11840G>A (p.Gly3947Glu) rs770531319 0.00004
NM_000384.3(APOB):c.12136C>T (p.Arg4046Trp) rs200222843 0.00004
NM_000384.3(APOB):c.12536C>T (p.Thr4179Ile) rs370180297 0.00004
NM_000384.3(APOB):c.1400C>G (p.Ala467Gly) rs376602710 0.00004
NM_000384.3(APOB):c.166T>C (p.Tyr56His) rs150496608 0.00004
NM_000384.3(APOB):c.1753C>A (p.Gln585Lys) rs140101603 0.00004
NM_000384.3(APOB):c.1910A>G (p.Tyr637Cys) rs766573431 0.00004
NM_000384.3(APOB):c.1951G>C (p.Ala651Pro) rs377179209 0.00004
NM_000384.3(APOB):c.3220G>A (p.Gly1074Arg) rs72653074 0.00004
NM_000384.3(APOB):c.3904T>C (p.Phe1302Leu) rs201926213 0.00004
NM_000384.3(APOB):c.4298C>T (p.Ser1433Leu) rs200708197 0.00004
NM_000384.3(APOB):c.4441G>A (p.Val1481Ile) rs748985164 0.00004
NM_000384.3(APOB):c.6100A>G (p.Ile2034Val) rs200339216 0.00004
NM_000384.3(APOB):c.8635A>T (p.Asn2879Tyr) rs200367807 0.00004
NM_000384.3(APOB):c.13448C>T (p.Ala4483Val) rs147416761 0.00003
NM_000384.3(APOB):c.13586A>G (p.His4529Arg) rs958014928 0.00003
NM_000384.3(APOB):c.13607C>T (p.Thr4536Met) rs748727595 0.00003
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834 0.00003
NM_000384.3(APOB):c.218C>A (p.Ala73Asp) rs377171241 0.00003
NM_000384.3(APOB):c.3851G>A (p.Arg1284Gln) rs372154910 0.00003
NM_000384.3(APOB):c.4352G>T (p.Gly1451Val) rs777471630 0.00003
NM_000384.3(APOB):c.4954A>C (p.Ile1652Leu) rs776008744 0.00003
NM_000384.3(APOB):c.5164G>A (p.Asp1722Asn) rs757793421 0.00003
NM_000384.3(APOB):c.598G>A (p.Ala200Thr) rs763878189 0.00003
NM_000384.3(APOB):c.5991T>A (p.Asp1997Glu) rs768045701 0.00003
NM_000384.3(APOB):c.655C>T (p.Arg219Cys) rs145661815 0.00003
NM_000384.3(APOB):c.6731G>A (p.Ser2244Asn) rs146333152 0.00003
NM_000384.3(APOB):c.7565G>A (p.Arg2522Gln) rs781243278 0.00003
NM_000384.3(APOB):c.8258C>G (p.Pro2753Arg) rs765290152 0.00003
NM_000384.3(APOB):c.8299C>T (p.Pro2767Ser) rs138465008 0.00003
NM_000384.3(APOB):c.8693T>C (p.Leu2898Pro) rs376974746 0.00003
NM_000384.3(APOB):c.8840G>C (p.Ser2947Thr) rs183475426 0.00003
NM_000384.3(APOB):c.889C>T (p.Arg297Cys) rs766376456 0.00003
NM_000384.3(APOB):c.9077A>T (p.Asn3026Ile) rs770981667 0.00003
NM_000384.3(APOB):c.10114T>G (p.Ser3372Ala) rs138850232 0.00002
NM_000384.3(APOB):c.1075A>G (p.Ser359Gly) rs757383498 0.00002
NM_000384.3(APOB):c.11309T>G (p.Ile3770Ser) rs199954127 0.00002
NM_000384.3(APOB):c.11339C>T (p.Ala3780Val) rs755025293 0.00002
NM_000384.3(APOB):c.12779A>G (p.His4260Arg) rs781061676 0.00002
NM_000384.3(APOB):c.12851T>C (p.Phe4284Ser) rs750204106 0.00002
NM_000384.3(APOB):c.12890G>A (p.Arg4297His) rs375701380 0.00002
NM_000384.3(APOB):c.13130T>C (p.Ile4377Thr) rs778174655 0.00002
NM_000384.3(APOB):c.13463T>C (p.Ile4488Thr) rs374389311 0.00002
NM_000384.3(APOB):c.1595G>A (p.Arg532Gln) rs753831464 0.00002
NM_000384.3(APOB):c.2115T>G (p.Phe705Leu) rs747520197 0.00002
NM_000384.3(APOB):c.2821A>T (p.Thr941Ser) rs748256431 0.00002
NM_000384.3(APOB):c.3271A>G (p.Arg1091Gly) rs368122382 0.00002
NM_000384.3(APOB):c.3828C>A (p.Asn1276Lys) rs199966747 0.00002
NM_000384.3(APOB):c.3935T>C (p.Met1312Thr) rs763989940 0.00002
NM_000384.3(APOB):c.4181A>G (p.Asp1394Gly) rs769694008 0.00002
NM_000384.3(APOB):c.4279C>T (p.Arg1427Cys) rs759979553 0.00002
NM_000384.3(APOB):c.4850G>A (p.Gly1617Glu) rs146341569 0.00002
NM_000384.3(APOB):c.4928C>T (p.Ala1643Val) rs1008238083 0.00002
NM_000384.3(APOB):c.5038G>T (p.Ala1680Ser) rs372282063 0.00002
NM_000384.3(APOB):c.544G>A (p.Val182Met) rs769838164 0.00002
NM_000384.3(APOB):c.5580G>T (p.Gln1860His) rs199585500 0.00002
NM_000384.3(APOB):c.7727G>A (p.Arg2576His) rs759057929 0.00002
NM_000384.3(APOB):c.9095C>A (p.Thr3032Asn) rs754332101 0.00002
NM_000384.3(APOB):c.10025C>T (p.Ser3342Phe) rs267599180 0.00001
NM_000384.3(APOB):c.1077T>G (p.Ser359Arg) rs752605091 0.00001
NM_000384.3(APOB):c.11078C>A (p.Thr3693Asn) rs776068398 0.00001
NM_000384.3(APOB):c.12025G>A (p.Val4009Met) rs140424976 0.00001
NM_000384.3(APOB):c.12122C>G (p.Thr4041Ser) rs776875782 0.00001
NM_000384.3(APOB):c.12635C>G (p.Thr4212Ser) rs201208445 0.00001
NM_000384.3(APOB):c.12889C>T (p.Arg4297Cys) rs761260344 0.00001
NM_000384.3(APOB):c.12977T>A (p.Ile4326Asn) rs763668912 0.00001
NM_000384.3(APOB):c.1331C>T (p.Ala444Val) rs769425660 0.00001
NM_000384.3(APOB):c.1672C>T (p.Arg558Ter) rs878853970 0.00001
NM_000384.3(APOB):c.1904G>A (p.Arg635Gln) rs202001155 0.00001
NM_000384.3(APOB):c.2333G>A (p.Arg778His) rs201595604 0.00001
NM_000384.3(APOB):c.2335A>G (p.Ile779Val) rs763559077 0.00001
NM_000384.3(APOB):c.2676G>A (p.Pro892=) rs759072451 0.00001
NM_000384.3(APOB):c.2849C>T (p.Thr950Met) rs187506285 0.00001
NM_000384.3(APOB):c.2864C>T (p.Pro955Leu) rs763052786 0.00001
NM_000384.3(APOB):c.3052G>A (p.Ala1018Thr) rs149357946 0.00001
NM_000384.3(APOB):c.3979G>A (p.Gly1327Arg) rs760203474 0.00001
NM_000384.3(APOB):c.4156C>T (p.Arg1386Trp) rs201270852 0.00001
NM_000384.3(APOB):c.4366G>A (p.Asp1456Asn) rs147759262 0.00001
NM_000384.3(APOB):c.460C>G (p.Leu154Val) rs914357651 0.00001
NM_000384.3(APOB):c.5617G>A (p.Ala1873Thr) rs750451480 0.00001
NM_000384.3(APOB):c.6092G>C (p.Ser2031Thr) rs776946940 0.00001
NM_000384.3(APOB):c.6764A>C (p.Lys2255Thr) rs1249838546 0.00001
NM_000384.3(APOB):c.7603T>C (p.Tyr2535His) rs146593015 0.00001
NM_000384.3(APOB):c.7979C>T (p.Ser2660Phe) rs1408828737 0.00001
NM_000384.3(APOB):c.9633C>A (p.Asn3211Lys) rs748318755 0.00001
NM_000384.3(APOB):c.9692A>G (p.Asp3231Gly) rs778780703 0.00001
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
NM_000384.3(APOB):c.10740C>G (p.Asn3580Lys) rs150312765
NM_000384.3(APOB):c.10811C>A (p.Ala3604Glu) rs776815102
NM_000384.3(APOB):c.12005C>T (p.Ala4002Val) rs369364335
NM_000384.3(APOB):c.12309G>C (p.Lys4103Asn) rs574791609
NM_000384.3(APOB):c.1568T>C (p.Ile523Thr) rs781234577
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
NM_000384.3(APOB):c.3850C>T (p.Arg1284Trp)
NM_000384.3(APOB):c.4056_4064dup (p.Gly1354_Leu1356dup) rs777844352
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.5689C>T (p.Arg1897Cys) rs189341276
NM_000384.3(APOB):c.6161T>G (p.Ile2054Ser) rs538245770
NM_000384.3(APOB):c.649C>T (p.Pro217Ser) rs573308525
NM_000384.3(APOB):c.656G>T (p.Arg219Leu) rs201606169
NM_000384.3(APOB):c.7540G>A (p.Glu2514Lys) rs1216733455
NM_000384.3(APOB):c.7726C>T (p.Arg2576Cys) rs767146440
NM_000384.3(APOB):c.8045G>T (p.Ser2682Ile) rs375053331
NM_000384.3(APOB):c.8226G>T (p.Gln2742His) rs376773500
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs) rs1215189537
NM_000384.3(APOB):c.9221A>G (p.Tyr3074Cys) rs372902533
NM_000384.3(APOB):c.952C>A (p.Pro318Thr) rs758678209

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