ClinVar Miner

Variants in gene POT1 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 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
304 30 0 8 6 6 3 20

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 risk factor
likely pathogenic 0 0 2 0 0 0 0
uncertain significance 1 3 0 6 2 1 5
likely benign 0 0 5 0 8 0 0
benign 0 0 1 8 0 0 0
risk factor 0 0 5 0 0 0 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg) rs143635917
NM_015450.3(POT1):c.1227A>C (p.Pro409=) rs552835784
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063
NM_015450.3(POT1):c.147del (p.Ile49fs) rs1064794328
NM_015450.3(POT1):c.1687-5T>A rs35062732
NM_015450.3(POT1):c.1841A>G (p.Asn614Ser) rs202024401
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) rs758673417
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys) rs587777472
NM_015450.3(POT1):c.283G>T (p.Gly95Cys) rs797045168
NM_015450.3(POT1):c.410G>A (p.Arg137His) rs587777475
NM_015450.3(POT1):c.64A>G (p.Ile22Val) rs375440229
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871
NM_015450.3(POT1):c.747A>G (p.Gln249=) rs35361862
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357
NM_015450.3(POT1):c.828G>A (p.Arg276=) rs76496261
NM_015450.3(POT1):c.846C>T (p.Asn282=) rs142704514
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706
Single allele

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