ClinVar Miner

Variants in gene COG7 with conflicting interpretations

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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
439 48 0 8 25 0 1 34

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
pathogenic 0 2 0 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 0 1 0 18 7
likely benign 0 0 18 0 6
benign 0 0 7 6 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153603.4(COG7):c.534G>A (p.Glu178=) rs80204521 0.00330
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296 0.00222
NM_153603.4(COG7):c.1971C>T (p.His657=) rs114458562 0.00156
NM_153603.4(COG7):c.2283C>T (p.Thr761=) rs144814374 0.00150
NM_153603.4(COG7):c.1137+11A>C rs74012174 0.00124
NM_153603.4(COG7):c.900C>T (p.Asn300=) rs112611398 0.00091
NM_153603.4(COG7):c.850A>T (p.Ile284Phe) rs115605801 0.00088
NM_153603.4(COG7):c.1113C>T (p.Leu371=) rs114661874 0.00078
NM_153603.4(COG7):c.319-12C>T rs201965984 0.00077
NM_153603.4(COG7):c.1455C>T (p.Phe485=) rs116153163 0.00068
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr) rs145412851 0.00065
NM_153603.4(COG7):c.2052G>A (p.Ser684=) rs142744907 0.00060
NM_153603.4(COG7):c.835G>A (p.Val279Ile) rs367796897 0.00039
NM_153603.4(COG7):c.435+2T>C rs201446992 0.00022
NM_153603.4(COG7):c.1972G>A (p.Ala658Thr) rs115073082 0.00020
NM_153603.4(COG7):c.811-14C>G rs545654100 0.00016
NM_153603.4(COG7):c.904G>A (p.Val302Met) rs116314856 0.00015
NM_153603.4(COG7):c.170-4A>G rs544015151 0.00014
NM_153603.4(COG7):c.2013G>A (p.Leu671=) rs370447404 0.00012
NM_153603.4(COG7):c.1851C>T (p.Pro617=) rs748835759 0.00005
NM_153603.4(COG7):c.1137+9G>A rs746762111 0.00004
NM_153603.4(COG7):c.963C>T (p.Thr321=) rs762510375 0.00004
NM_153603.4(COG7):c.1167G>A (p.Gln389=) rs201313774 0.00003
NM_153603.4(COG7):c.1410-6G>C rs369925503 0.00003
NM_153603.4(COG7):c.1629T>C (p.Tyr543=) rs760342154 0.00003
NM_153603.4(COG7):c.1804-13G>A rs759680428 0.00003
NM_153603.4(COG7):c.687+14C>T rs139853094 0.00003
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734 0.00001
NM_153603.4(COG7):c.1817C>A (p.Ala606Asp) rs768615420 0.00001
NM_153603.4(COG7):c.1005C>T (p.His335=) rs532636981
NM_153603.4(COG7):c.1089C>T (p.Gly363=) rs539939894
NM_153603.4(COG7):c.1305T>C (p.Asp435=) rs1019861391
NM_153603.4(COG7):c.1890C>A (p.Ile630=) rs199904223
NM_153603.4(COG7):c.366C>T (p.Ala122=) rs74012178

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