ClinVar Miner

Variants in gene PKLR 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
221 42 0 16 10 0 14 36

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 13 4 0 0
likely pathogenic 13 0 13 0 0
uncertain significance 4 13 0 10 1
likely benign 0 0 10 0 3
benign 0 0 1 3 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1269+43T>C rs8177982 0.00718
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00163
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064 0.00056
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys) rs201406712 0.00041
NM_000298.6(PKLR):c.92C>T (p.Ala31Val) rs150077703 0.00040
NM_000298.6(PKLR):c.805G>T (p.Val269Phe) rs200695047 0.00011
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702 0.00010
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271 0.00007
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys) rs138871700 0.00004
NM_000298.6(PKLR):c.401T>A (p.Val134Asp) rs574051756 0.00003
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) rs918627824 0.00002
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser) rs776594413 0.00001
NM_000298.6(PKLR):c.1269G>A (p.Ala423=) rs774652817 0.00001
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) rs768002493 0.00001
NM_000298.6(PKLR):c.1493G>A (p.Arg498His) rs758327704 0.00001
NM_000298.6(PKLR):c.187G>A (p.Ala63Thr) rs1165604977 0.00001
NM_000298.6(PKLR):c.307del (p.Arg103fs) rs1433205059 0.00001
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn) rs747097960
NM_000298.6(PKLR):c.1168G>A (p.Asp390Asn) rs147034239
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr) rs1403323591
NM_000298.6(PKLR):c.1219G>A (p.Glu407Lys) rs866472917
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) rs755522396
NM_000298.6(PKLR):c.1378G>A (p.Val460Met) rs752034960
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala) rs1674489086
NM_000298.6(PKLR):c.1705C>T (p.Arg569Trp)
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000298.6(PKLR):c.514G>C (p.Glu172Gln)
NM_000298.6(PKLR):c.972T>C (p.Asp324=) rs8177974
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu) rs138476691

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