ClinVar Miner

Variants in gene combination POLG, POLGARF 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
806 49 0 22 36 0 5 58

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 3 0 0
likely pathogenic 6 0 4 0 0
uncertain significance 3 4 0 34 6
likely benign 0 0 34 0 16
benign 0 0 6 16 0

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_002693.3(POLG):c.134A>G (p.Gln45Arg) rs201016638 0.00316
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_002693.3(POLG):c.408C>G (p.Asp136Glu) rs115109291 0.00023
NM_002693.3(POLG):c.186A>G (p.Leu62=) rs745310138 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_002693.3(POLG):c.87C>T (p.Ser29=) rs587781116 0.00011
NM_002693.3(POLG):c.129G>A (p.Gln43=) rs570989155 0.00006
NM_002693.3(POLG):c.154C>A (p.Gln52Lys) rs376683989 0.00006
NM_002693.3(POLG):c.125G>A (p.Arg42Gln) rs74382477 0.00005
NM_002693.3(POLG):c.150G>A (p.Gln50=) rs766501874 0.00005
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002693.3(POLG):c.33C>T (p.Gly11=) rs1482684558 0.00002
NM_002693.3(POLG):c.114G>T (p.Gly38=) rs794727268 0.00001
NM_002693.3(POLG):c.116A>G (p.Gln39Arg) rs749750052 0.00001
NM_002693.3(POLG):c.330C>T (p.His110=) rs376266682 0.00001
NM_002693.3(POLG):c.425T>C (p.Leu142Pro) rs1064797202 0.00001
NM_002693.3(POLG):c.581C>T (p.Ala194Val) rs779122022 0.00001
NM_002693.3(POLG):c.603C>T (p.Val201=) rs768005050 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002693.2(POLG):c.125_139dup rs780010436
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup) rs761080016
NM_002693.3(POLG):c.125_139del (p.Arg42_Gln46del) rs780010436
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[17] (p.Gln50_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[6] (p.Gln51_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.127_128insGGCAGC (p.Arg42_Gln43insArgGln) rs776122200
NM_002693.3(POLG):c.137A>G (p.Gln46Arg) rs1555454339
NM_002693.3(POLG):c.153G>A (p.Gln51=) rs1453538834
NM_002693.3(POLG):c.155_166del (p.Gln52_Gln55del) rs761909257
NM_002693.3(POLG):c.158_159delinsCT (p.Gln53Pro) rs1064795981
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del) rs769735492
NM_002693.3(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.3(POLG):c.159_164dup (p.Gln54_Gln55dup) rs760135553
NM_002693.3(POLG):c.160C>T (p.Gln54Ter) rs774768199
NM_002693.3(POLG):c.172C>T (p.Gln58Ter) rs2055625602
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
NM_002693.3(POLG):c.210G>T (p.Arg70=) rs751225754
NM_002693.3(POLG):c.237C>G (p.Leu79=) rs774537232
NM_002693.3(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.2867G>A (p.Gly956Asp) rs758613718
NM_002693.3(POLG):c.3294T>G (p.Asn1098Lys) rs374224714
NM_002693.3(POLG):c.381G>T (p.Leu127=) rs1057524724
NM_002693.3(POLG):c.522C>G (p.Gly174=) rs766842881
NM_002693.3(POLG):c.660-2A>G rs2141806882

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