ClinVar Miner

Variants with conflicting interpretations studied for Hypercholesterolaemia

Coded as:
Minimum review status of the submission for Hypercholesterolaemia: Y axis collection method of the submission for Hypercholesterolaemia:
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
0 1 0 13 14 0 28 36

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
Hypercholesterolaemia pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0 0
likely pathogenic 6 0 3 0 1
uncertain significance 18 14 0 10 5
likely benign 4 4 4 0 4

Condition to condition summary #

Total conditions: 5
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 1 0 13 14 0 28 36
Familial hypercholesterolemias 0 9 0 4 7 0 7 18
not provided 0 13 0 2 2 0 4 8
Familial hypercholesterolemia - homozygous 0 4 0 2 0 0 3 5
not specified 0 4 0 0 3 0 0 3

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) rs370471092
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.1166C>T (p.Thr389Met) rs149227308
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.1359-1G>A rs139617694
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1837G>A (p.Val613Ile) rs148181903
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.232C>T (p.Arg78Cys) rs370860696
NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.859G>A (p.Gly287Ser) rs375495026
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(LDLR):c.967G>A (p.Gly323Ser) rs373869746
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860

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