ClinVar Miner

Variants in gene POLR3A 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
883 71 0 45 9 0 9 60

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 22 2 0 0
likely pathogenic 22 0 8 0 0
uncertain significance 2 8 0 7 3
likely benign 0 0 7 0 23
benign 0 0 3 23 0

All variants with conflicting interpretations #

Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_007055.4(POLR3A):c.2247+27C>T rs143228905 0.01170
NM_007055.4(POLR3A):c.885+19C>G rs12263414 0.01064
NM_007055.4(POLR3A):c.1566G>T (p.Leu522=) rs12255950 0.01052
NM_007055.4(POLR3A):c.3645C>T (p.Asp1215=) rs147591223 0.00606
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_007055.4(POLR3A):c.3987T>C (p.Phe1329=) rs16935497 0.00487
NM_007055.4(POLR3A):c.741G>A (p.Pro247=) rs12764690 0.00484
NM_007055.4(POLR3A):c.3846C>T (p.Ile1282=) rs116197727 0.00444
NM_007055.4(POLR3A):c.3660G>A (p.Lys1220=) rs141312907 0.00313
NM_007055.4(POLR3A):c.927C>T (p.Asp309=) rs41274610 0.00287
NM_007055.4(POLR3A):c.2472C>T (p.His824=) rs139259717 0.00220
NM_007055.4(POLR3A):c.2334C>T (p.Leu778=) rs144671070 0.00187
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_007055.4(POLR3A):c.2604G>A (p.Thr868=) rs142834115 0.00155
NM_007055.4(POLR3A):c.1227A>G (p.Gln409=) rs144892779 0.00122
NM_007055.4(POLR3A):c.4071C>T (p.Thr1357=) rs140044475 0.00120
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr) rs41274600 0.00083
NM_007055.4(POLR3A):c.1910-13A>G rs375882550 0.00041
NM_007055.4(POLR3A):c.1729G>A (p.Glu577Lys) rs151084236 0.00033
NM_007055.4(POLR3A):c.1311A>G (p.Arg437=) rs188441842 0.00014
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_007055.4(POLR3A):c.1572+1G>A rs141484643 0.00003
NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=) rs576629157 0.00003
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.1048+5G>T rs890755853 0.00001
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) rs755165065 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_007055.4(POLR3A):c.2031A>G (p.Ala677=) rs562035665 0.00001
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) rs780839834 0.00001
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter) rs750874617 0.00001
NM_007055.4(POLR3A):c.3337-11T>C rs1564613755 0.00001
NM_007055.4(POLR3A):c.3337-5T>A rs368905417 0.00001
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter) rs755978559 0.00001
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1649A>G (p.Tyr550Cys) rs886047289
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His) rs34588967
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu) rs34588967
NM_007055.4(POLR3A):c.1771-11dup rs544204280
NM_007055.4(POLR3A):c.1771-5C>G rs199733994
NM_007055.4(POLR3A):c.1771-5del rs544204280
NM_007055.4(POLR3A):c.1771-6C>A rs115020338
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007055.4(POLR3A):c.1771-6C>T rs115020338
NM_007055.4(POLR3A):c.1771-7C>A rs201314157
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1771-7C>T rs201314157
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) rs1564620047
NM_007055.4(POLR3A):c.1862G>A (p.Gly621Asp) rs757718124
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg) rs1446265632
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) rs1564617848
NM_007055.4(POLR3A):c.2533A>G (p.Thr845Ala)
NM_007055.4(POLR3A):c.2547C>G (p.Phe849Leu) rs1847342207
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.2988+1G>A rs201733323
NM_007055.4(POLR3A):c.3014G>T (p.Arg1005Leu) rs200118797
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs) rs747683665
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) rs768222183

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