ClinVar Miner

Variants in gene PIGO 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
836 51 0 11 19 0 4 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 5 3 0 0
likely pathogenic 5 0 2 0 0
uncertain significance 3 2 0 18 1
likely benign 0 0 18 0 6
benign 0 0 1 6 0

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032634.4(PIGO):c.1120-15C>A rs77344591 0.00631
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500 0.00557
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_032634.4(PIGO):c.2268G>A (p.Ala756=) rs149171782 0.00310
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923 0.00277
NM_032634.4(PIGO):c.2166G>C (p.Ala722=) rs147101825 0.00143
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00093
NM_032634.4(PIGO):c.626A>G (p.Asn209Ser) rs138028827 0.00084
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp) rs147098410 0.00040
NM_032634.4(PIGO):c.969T>G (p.Leu323=) rs142658052 0.00032
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile) rs139155910 0.00024
NM_032634.4(PIGO):c.794G>A (p.Arg265His) rs200924324 0.00024
NM_032634.4(PIGO):c.1132C>T (p.Leu378Phe) rs746870615 0.00016
NM_032634.4(PIGO):c.3070-12C>G rs199864376 0.00013
NM_032634.4(PIGO):c.364C>T (p.Arg122Ter) rs375682284 0.00007
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu) rs150734953 0.00007
NM_032634.3(PIGO):c.3069+5G>A rs368953604 0.00004
NM_032634.4(PIGO):c.468C>T (p.His156=) rs374876329 0.00004
NM_032634.4(PIGO):c.2854+7C>A rs768338180 0.00003
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile) rs149439295 0.00003
NM_032634.4(PIGO):c.1416A>T (p.Ala472=) rs749630366 0.00001
NM_032634.4(PIGO):c.2874G>C (p.Leu958=) rs1269359376 0.00001
NM_032634.4(PIGO):c.1758C>T (p.Val586=) rs144103228
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_032634.4(PIGO):c.2435T>G (p.Leu812Ter) rs746967719
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe) rs142164373
NM_032634.4(PIGO):c.2979G>A (p.Leu993=) rs1554672011
NM_032634.4(PIGO):c.3141-9T>A rs374227554
NM_032634.4(PIGO):c.387C>A (p.Thr129=) rs765968784
NM_032634.4(PIGO):c.589_590del (p.Pro197fs) rs763591247
NM_032634.4(PIGO):c.714C>T (p.Gly238=) rs148186264

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