ClinVar Miner

Variants with conflicting interpretations studied for Sitosterolemia

Coded as:
Minimum review status of the submission for Sitosterolemia: Collection method of the submission for Sitosterolemia:
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
253 26 0 13 18 0 0 29

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
Sitosterolemia 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 2 0
likely benign 0 0 11 0 5
benign 0 0 7 7 0

Condition to condition summary #

Total conditions: 2
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
Sitosterolemia 1 0 24 0 12 17 0 0 27
Sitosterolemia 298 3 0 5 2 0 0 7

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) rs6756629 0.06901
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_022437.3(ABCG8):c.-15A>C rs72647315 0.03755
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) rs145164937 0.00190
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val) rs140899003 0.00189
NM_022436.3(ABCG5):c.696C>T (p.Val232=) rs72796720 0.00145
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg) rs144973796 0.00127
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00109
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=) rs146801512 0.00063
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) rs150716811 0.00052
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=) rs141016088 0.00038
NM_022436.3(ABCG5):c.27C>T (p.Pro9=) rs72542428 0.00033
NM_022436.3(ABCG5):c.442C>T (p.Leu148=) rs143444046 0.00033
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_022436.3(ABCG5):c.1118+13C>G rs371609600 0.00021
NM_022436.3(ABCG5):c.1180C>T (p.Leu394=) rs771802286 0.00005
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile) rs143402711 0.00004
NM_022436.3(ABCG5):c.1569C>T (p.Ile523=) rs376969021 0.00004
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile) rs777411661 0.00002
NM_022436.3(ABCG5):c.804C>T (p.Phe268=) rs554183818 0.00002
NM_022436.3(ABCG5):c.-118A>C rs55853083
NM_022436.3(ABCG5):c.1228A>C (p.Asn410His) rs115590670
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr) rs770103215
NM_022436.3(ABCG5):c.905-3dup rs142037828
NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg) rs143740796
NM_022436.3(ABCG5):c.978del (p.Glu326fs) rs869025350

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