ClinVar Miner

Variants in gene LPL 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
615 110 0 24 17 2 10 45

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 association other
pathogenic 0 10 5 1 1 0 1
likely pathogenic 10 0 7 1 1 0 0
uncertain significance 5 7 0 12 7 0 0
likely benign 1 1 12 0 14 0 1
benign 1 1 7 14 0 1 1
association 0 0 0 0 1 0 0
other 1 0 0 1 1 0 0

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.*1671T>C rs13702 0.35875
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_000237.3(LPL):c.1018+16T>C rs59184895 0.01380
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000237.3(LPL):c.1279G>A (p.Ala427Thr) rs5934 0.00972
NM_000237.3(LPL):c.-283G>T rs80351041 0.00790
NM_000237.3(LPL):c.430-6C>T rs11570897 0.00432
NM_000237.3(LPL):c.1018+34A>G rs190249506 0.00372
NM_000237.3(LPL):c.1135A>G (p.Thr379Ala) rs300 0.00353
NM_000237.3(LPL):c.429+20A>C rs3735959 0.00233
NM_000237.3(LPL):c.456T>C (p.Asn152=) rs116678290 0.00183
NM_000237.3(LPL):c.1128C>T (p.Ile376=) rs299 0.00140
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) rs76708715 0.00133
NM_000237.2(LPL):c.-241G>C rs540525285 0.00103
NM_000237.3(LPL):c.345A>C (p.Ser115=) rs147309575 0.00088
NM_000237.3(LPL):c.786G>A (p.Gln262=) rs140986245 0.00066
NM_000237.3(LPL):c.542-8C>T rs201634558 0.00059
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_000237.3(LPL):c.687T>C (p.His229=) rs45607438 0.00022
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) rs116403115 0.00016
NM_000237.3(LPL):c.286G>C (p.Val96Leu) rs373088068 0.00013
NM_000237.3(LPL):c.528C>G (p.Val176=) rs199606532 0.00013
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_000237.3(LPL):c.547G>A (p.Asp183Asn) rs781614031 0.00002
NM_000237.3(LPL):c.397C>T (p.Gln133Ter) rs118204058 0.00001
NM_000237.3(LPL):c.590G>A (p.Arg197His) rs372668179 0.00001
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) rs118204060 0.00001
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) rs118204068 0.00001
NM_000237.3(LPL):c.-172_-171dup rs146978295
NM_000237.3(LPL):c.1108G>A (p.Val370Met)
NM_000237.3(LPL):c.1187A>T (p.Glu396Val) rs886037775
NM_000237.3(LPL):c.1250G>A (p.Trp417Ter) rs2128839600
NM_000237.3(LPL):c.213C>G (p.His71Gln) rs11542065
NM_000237.3(LPL):c.250-8_250-6del
NM_000237.3(LPL):c.276G>A (p.Val92=) rs551959021
NM_000237.3(LPL):c.290C>T (p.Ala97Val) rs201946950
NM_000237.3(LPL):c.410G>A (p.Arg137Gln)
NM_000237.3(LPL):c.678A>G (p.Pro226=) rs558390128
NM_000237.3(LPL):c.784C>T (p.Gln262Ter) rs1297688787
NM_000237.3(LPL):c.862G>A (p.Ala288Thr)
NM_000237.3(LPL):c.89-10del rs547644955
NM_000237.3(LPL):c.995C>T (p.Thr332Ile) rs2128838568

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