ClinVar Miner

Variants in gene POT1 with conflicting interpretations

See also:
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
1877 60 0 15 11 0 11 32

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 6 9 0 0
likely pathogenic 6 0 2 0 0
uncertain significance 10 2 0 11 2
likely benign 0 0 10 0 9
benign 0 0 2 9 0

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015450.3(POT1):c.1792+50A>G rs146966778 0.01095
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357 0.00171
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914 0.00098
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg) rs143635917 0.00042
NM_015450.3(POT1):c.340A>G (p.Ile114Val) rs146552802 0.00027
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063 0.00022
NM_015450.3(POT1):c.64A>G (p.Ile22Val) rs375440229 0.00019
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871 0.00012
NM_015450.3(POT1):c.939C>T (p.Asp313=) rs746756338 0.00006
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077 0.00004
NM_015450.3(POT1):c.1793-25G>A rs575804706 0.00004
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470 0.00003
NM_015450.3(POT1):c.1164-1G>A rs866612394 0.00002
NM_015450.3(POT1):c.747A>G (p.Gln249=) rs35361862 0.00002
NM_015450.3(POT1):c.1369+10T>A rs773549874 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015450.3(POT1):c.280C>G (p.Gln94Glu) rs587777474 0.00001
NM_015450.3(POT1):c.899A>G (p.Asn300Ser) rs573222502 0.00001
NM_015450.3(POT1):c.916A>G (p.Ile306Val) rs1415345156 0.00001
NM_015450.3(POT1):c.-153-9del rs57468586
NM_015450.3(POT1):c.1505+7TGTTT[5] rs66826272
NM_015450.3(POT1):c.1687-1G>A rs587777473
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs) rs1562972380
NM_015450.3(POT1):c.1829A>G (p.Tyr610Cys) rs1363813360
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.809G>A (p.Ser270Asn) rs587777477
NM_015450.3(POT1):c.818G>A (p.Arg273Gln) rs587777476
Single allele

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